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Prof

Melissa Southey

Honorary
Clinical Pathology
epigenomics
genomics
evidence-based practice
screening
risk modelling
molecular pathology
science & technology
life sciences & biomedicine
humans
Melissa Southey's Profile Picture
Prof

Melissa Southey

 
Division
Medicine, Dentistry And Health Sciences
 
Primary Interest
Cancer (including breast
Melissa Southey's Profile Picture
Prof

Melissa Southey

 

Professor Southey, PhD, Grad Dip Law, FHGSA, FFSc (RCPA), has a track record in both molecular diagnostic pathology and molecular genetic research. Her research programs are focused on characterizing the genetic and epigenetic factors responsible for cancer predisposition and progression, including familial aggregation of cancers.

She leads a large active team of researchers, and in parallel, has numerous national and international productive collaborations. Significant focus is placed on the common cancers (breast, colorectal and prostate cancer) utilizing PEDIGREE's mature population-based studies and the application of new genetic technologies. She leads well advanced studies using highly selected multiple-case families that are applying massively parallel sequencing to identify new “high risk” breast and prostate cancer susceptibility genes, has recently led the formation of an international consortium COMPLEXO that aims to pool data to expedite discoveries in this area and has worked to define modes of translation of new genetic information into clinical practice. Her team has substantial activities based on Epigenome-Wide Association Studies (EWASs) utilizing the resources of the Melbourne Collaborative Cohort Study that are working to identify epigenetic risk factors for cancer. These initiatives are working towards improving the healthcare outcomes for individuals at high risk of cancer and providing the foundation for the emerging "Precision Public Health" era.

Projects

Displaying the 88 most recent projects by Melissa Southey.

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Reducing The Burden Of Breast Cancer By Precision Prevention: Improving Breast Cancer Risk Prediction By Integrating Comprehensive Information

2020 - 2023
Active
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Ipreventnext - Developing An Online Decision Aid For Breast Cancer Patients Considering Contralateral Mastectomy

2020 - 2023
Active
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Using Polygenic Risk Modification To Improve Breast Cancer Prevention: The Primo Trial

2020 - 2024
Active
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Using Polygenic Risk Modification To Improve Breast Cancer Prevention: The Primo Trial

2020 - 2024
Active
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The Kathleen Cuningham Foundation Consortium For Research Into Familial Breast Cancer (Kconfab)

2018 - 2022
Active
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Biorepository 2018

2018 - 2018
Completed
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Service Agreement Between University Of Melbourne Australian Site Of The Breast Cancer Family Registry Cohort And Coriell Usa.

2017 - 2020
Active
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Palb2 Transcript Analysis

2017 - 2020
Completed
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Heritable Epigenetic Risk Factors For Prostate Cancer.

2017 - 2019
Completed
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Leaf Study

2016 - 2016
Completed
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Bcac Dta Concept 337

2016 - 2019
Completed
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Identifying Biomarkers Associated With Fatal Prostate Cancer Through Genome-Wide Mrna Expression Analyses.

2016 - 2017
Completed
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Preparing Australia For Genomic Medicine: A Proposal By The Australian Genomics Health Alliance

The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This tec..

2016 - 2020
Active
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Preparing Australia For Genomic Medicine: A Proposal By The Australian Genomics Health Alliance

The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This tec..

2016 - 2020
Active
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Preparing Australia For Genomic Medicine: A Proposal By The Australian Genomics Health Alliance

The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This tec..

2016 - 2020
Active
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Preparing Australia For Genomic Medicine: A Proposal By The Australian Genomics Health Alliance

The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This tec..

2016 - 2020
Active
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Preparing Australia For Genomic Medicine: A Proposal By The Australian Genomics Health Alliance

The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This tec..

2016 - 2020
Active
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Laboratory Services Agreement With Rmh

2015 - 2017
Completed
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Breast Cancer Risk After Diagnostic Gene Sequencing (Bridges)

In BRIDGES, we aim to build a knowledge base to better define individual breast cancer risk. We bring together, in a multidisciplinary team,..

2015 - 2021
Active
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Evidence-Based Massively Parallel Translation: Application To Breast Cancer Susceptibility.

2015 - 2021
Active
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Evidence-Based Massively Parallel Translation: Application To Breast Cancer Susceptibility.

2015 - 2020
Completed
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Complexo

2015 - 2018
Completed
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Precision Public Health For Major Cancers - Novel Approaches To Building The Genetic, Epigenetic And Lifestyle Knowledge Base For Assessing Risk And Prognosis

The Program of research seeks to increase our understanding of cancer risk. We will use our large collections of population and family-based..

2015 - 2019
Completed
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Precision Public Health For Major Cancers - Novel Approaches To Building The Genetic, Epigenetic And Lifestyle Knowledge Base For Assessing Risk And Prognosis

The Program of research seeks to increase our understanding of cancer risk. We will use our large collections of population and family-based..

2015 - 2019
Completed
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Biorepository 2015

2015 - 2015
Completed
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Precision Public Health For Major Cancers - Novel Approaches To Building The Genetic, Epigenetic And Lifestyle Knowledge Base For Assessing Risk And Prognosis

The Program of research seeks to increase our understanding of cancer risk. We will use our large collections of population and family-based..

2015 - 2018
Completed
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A Case Control Study Of Risk Factors For Aggressive Prostate Cancer

2014 - 2015
Completed
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Risk And Penetrance Of Mutations From Breast Cancer Testing Panels

2014 - 2018
Completed
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Nucleic Acid Extraction Solution

2014 - 2015
Completed
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Identifying The Genetic Risks For Childhood Cancer

2014 - 2017
Completed
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High Risk Genes For Prostate Cancer

2014 - 2015
Completed
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Biorepository 2014

2014 - 2015
Completed
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Collaborative Research Agreement

2013 - 2017
Completed
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Pedigree

2013 - 2018
Completed
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High Risk Genes For Breast And Prostate Cancer

2013 - 2014
Completed
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High Risk Genes For Lobular Breast Cancer

This Small Business Innovation Research (SBIR) Phase I project aims to develop an innovative Raman-based real-time microalgal biofuel analyz..

2013 - 2016
Completed
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Complexo

2013 - 2018
Completed
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Pedigree Biorepository

2013 - 2013
Completed
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Translation Of Mammographic Density, A Strong And Heritable Risk Factor For Breast Cancer, Into Clinical Practice.

2012 - 2013
Completed
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Health 2020: Methylation Profiling

2012 - 2014
Completed
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Breast Cancer Family Registry Cohort

2012 - 2018
Completed
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Breast Cancer Family Registry Cohort

2012 - 2018
Completed
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Genome-Wide Association Study Of Breast Cancer In High-Risk Women

2012 - 2018
Completed
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Genome-Wide Association Study Of Breast Cancer In High-Risk Women

2012 - 2018
Completed
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Cimba

2012 - 2015
Completed
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Exome Sequencing At Genome Quebec

2012 - 2013
Completed
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Methylation Studies Of Cancer

2012 - 2013
Completed
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Identifying The Missing Heritability Of Breast Cancer

One of the strongest risk factors for the development of breast cancer is having a close relative with the disease. Some advances have been ..

2012 - 2014
Completed
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Translation Of Information About The Gene Palb2 Into Breast Cancer Clinical Genetic Services

Today in Australia women attending clinical genetics services and receiving genetic counselling due to a personal and/or family history of b..

2012 - 2014
Completed
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Centre For Translational Pathology

The Centre for Translational Pathology Research and Training is a collaborative network involving nine hospitals and research institutes aff..

2012 - 2016
Completed
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Methylation As A Risk Factor For Prostate Cancer

DNA methylation is a process that plays a critical role throughout life by altering the expression of genes. We aim to investigate the poten..

2012 - 2013
Completed
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High Risk Genes For Prostate Cancer

Some advances have been made in identifying genetic factors that underlie susceptibility to prostate cancer but few explain multiple-cases o..

2012 - 2015
Completed
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Identifying The Missing Heritability Of Breast Cancer

Rational: Despite decades of effort based on linkage analysis, candidate gene screening, genome-wide association studies (GWAS), and a varie..

2011 - 2014
Completed
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A Comprehensive Approach To Breast Cancer Susceptibility Across The Risk Spectrum

2011 - 2016
Completed
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Breast Cancer Family Registry

Rational: Despite decades of effort based on linkage analysis, candidate gene screening, genome-wide association studies (GWAS), and a varie..

2011 - 2011
Completed
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Massively Parallel Sequencing For Breast Cancer Gene Discover (Material: Data)

2011 - 2013
Completed
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Translating The Human Cancer Genome Project Into Better Outcomes For Patients With Cancer

2011 - 2013
Completed
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Australian Breast Cancer Family Registry

2011 - 2011
Completed
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Translation Of Mammographic Density, A Strong And Heritable Risk Factor For Breast Cancer, Into Clinical Practice.

2010 - 2012
Completed
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Translation Of Mammographic Density, A Strong And Heritable Risk Factor For Breast Cancer, Into Clinical Practice.

2010 - 2012
Completed
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Translation Of Mammographic Density, A Strong And Heritable Risk Factor For Breast Cancer, Into Clinical Practice.

2010 - 2012
Completed
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Discovering New Genes For Bowel Cancer

Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them g..

2010 - 2013
Completed
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Applying New Technology To Find The Breast Cancer Gene On Chromosome 4.

The proposed NSERC CREATE for a Meat Education and Training Network (MEaTnet) for Assuring Meat Safety and Quality in the Industrial Stream ..

2010 - 2012
Completed
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Translational Research To Better Use Genetic Testing To Reduce The Morbidity And Mortality Of Breast Cancer In Victoria

2009 - 2013
Completed
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Translation Of Mammographic Density, A Strong And Heritable Risk Factor For Breast Cancer, Into Clinical Practice.

2009 - 2012
Completed
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Translational Research To Better Use Genetic Testing To Reduce The Morbidity And Mortality Of Breast Cancer In Victoria

2009 - 2013
Completed
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Breast Cancer Linkage Study

2008 - 2010
Completed
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Which Genes Explain Why Women Differ So Much In The Brightness Of Their Mammograms, And Hence Their Breast Cancer Risk?

This grant application targets the acquisition of equipment specific for photonic research in the mid-infrared range of wavelengths. This eq..

2008 - 2010
Completed
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New Gene For Brca1-Like Early-Onset Breast Cancer

Recent developments of chemical and biological sensors require semi-conducting (conjugated) polymers preferably processible from environment..

2008 - 2010
Completed
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Which Genes Explain Why Women Differ So Much In The Brightness Of Their Mammograms, And Hence Their Breast Cancer Risk?

This grant application targets the acquisition of equipment specific for photonic research in the mid-infrared range of wavelengths. This eq..

2008 - 2010
Completed
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Infections, Inflammatory Markers And Prostate Cancer Risk

Prostate cancer is the leading cancer for Australian men but apart from getting older and having a family history of prostate cancer we do n..

2008 - 2011
Completed
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Prostate Cancer Foundation Of Australia - Equipment Grant

2008 - 2008
Completed
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NHMRC Research Fellowship

I am a molecular geneticist with a special interest in molecular pathology determining the inherited and somatic genetic events that predisp..

2008 - 2013
Completed
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Australia Fellowship - Professor John Hopper

This Fellowship aims to increase Australia’s capacity for outstanding health and medical research at the highest competitive level internati..

2007 - 2012
Completed
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Common And Rare Variants In Breast Cancer Risk

2007 - 2008
Completed
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What Genes And Environmental Factors Cause Change In Chronic Respiratory Problems From Childhood To Adulthood?

Chronic Respiratory Diseases (CRDs) are a major public health problem. It is known that CRDs change over time but we have no information on ..

2007 - 2011
Completed
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The Health 2020 Cohort Study (Health 2020)

Our aim is to develop appropriate infrastructures necessary to facilitate access by researchers to the accumulated data, including questionn..

2007 - 2012
Completed
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Genetic And Environmental Determinants Of Mammographic Density: A Twins And Sisters Study

Breast cancer is a major cause of early death and disability in Australian women. Breast density, a characteristic of women's breast that ca..

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Mutations In Steroid Hormone Metabolism Genes And Risk Of Breast Cancer

Completed
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Victorian Breast Cancer Research Consortium

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Nih Australian Breast Cancer Family Registry Southey-Hopper

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Genetic Studies Of Mammographic Density

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Regulation Of Breast Cancer Genes

Breast cancer affects approximately one in ten women and is therefore a major health problem. In order to improve the diagnosis, treatment a..

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"Germline Mutations In Mismatch Repair Genes: Prevalence, Risk Of Cancer, And Environmental Modifiers Of Risk."

Aims: 1. Develop a model that will predict who has a mutation in a group of genes that cause cancer 2. Estimate risk of cancer in people who..

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Mutations In Steroid Hormone Metabolism Genes And Risk Of Breast Cancer

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Myeloid Leukaemia Suppressor Genes Of Mouse And Man

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Australian Breast Cancer Family Registry

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Genetic And Environmental Determinants Of Mammographic Density: A Twins And Sisters Study

Breast cancer is a major cause of early death and disability in Australian women. Breast density, a characteristic of women's breast that ca..

88

Projects

Project Types

56

Research Grant

32

Research Contracts

Scholarly Works

Displaying the 578 most recent scholarly works by Melissa Southey.

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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers ofBRCA1andBRCA2pathogenic variants

Daniel R Barnes, Matti A Rookus, Lesley McGuffog, Goska Leslie, Thea M Mooij, Joe Dennis, Nasim Mavaddat, Julian Adlard, Munaza Ahmed, Kristiina Aittomaki, Nadine Andrieu, Irene L Andrulis, Norbert Arnold, Banu K Arun, Jacopo Azzollini, Judith Balmana, Rosa B Barkardottir, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian c..

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Cumulative Burden of Colorectal Cancer Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer

Alexi N Archambault, Yu-Ru Su, Jihyoun Jeon, Minta Thomas, Yi Lin, David V Conti, Aung Ko Win, Lori C Sakoda, Iris Lansdorp-Vogelaar, Elisabeth FP Peterse, Ann G Zauber, David Duggan, Andreana N Holowatyj, Jeroen R Huyghe, Hermann Brenner, Michelle Cotterchio, Stephane Bezieau, Stephanie L Schmit, Christopher K Edlund, Melissa C Southey, et al.

Journal article  |  2020  |  GASTROENTEROLOGY

BACKGROUND & AIMS: Early-onset colorectal cancer (CRC, in persons younger than 50 years old) is increasing in incidence; yet, in t..

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Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Xin Yang, Goska Leslie, Alicja Doroszuk, Sandra Schneider, Jamie Allen, Brennan Decker, Alison M Dunning, James Redman, James Scarth, Inga Plaskocinska, Craig Luccarini, Mitul Shah, Karen Pooley, Leila Dorling, Andrew Lee, Muriel A Adank, Julian Adlard, Kristiina Aittomaki, Irene L Andrulis, Peter Ang, et al.

Journal article  |  2020  |  Journal of Clinical Oncology

PURPOSE: To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic..

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Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

Tu Nguyen-Dumont, Jason A Steen, Ingrid Winship, Daniel J Park, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Mark Clendenning, Graham G Giles, John L Hopper, Melissa C Southey

Journal article  |  2020  |  Familial Cancer

The advent of gene panel testing is challenging the previous practice of using clinically defined cancer family syndromes to infor..

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Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Vivek L Patel, Evan L Busch, Tara M Friebel, Angel Cronin, Goska Leslie, Lesley McGuffog, Julian Adlard, Simona Agata, Bjarni A Agnarsson, Munaza Ahmed, Kristiina Aittomaki, Elisa Alducci, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Grazia Artioli, Brita Arver, Bernd Auber, Jacopo Azzollini, Judith Balmana, et al.

Journal article  |  2020  |  Cancer Research

Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer...

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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Laura Fachal, Hugues Aschard, Jonathan Beesley, Daniel R Barnes, Jamie Allen, Siddhartha Kar, Karen A Pooley, Joe Dennis, Kyriaki Michailidou, Constance Turman, Penny Soucy, Audrey Lemacon, Michael Lush, Jonathan P Tyrer, Maya Ghoussaini, Mahdi Moradi Marjaneh, Xia Jiang, Simona Agata, Kristiina Aittomaki, M Rosario Alonso, et al.

Journal article  |  2020  |  Nature Genetics

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underl..

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Body size and dietary risk factors for aggressive prostate cancer: a case-control study

Mikaela Pal, Allison M Hodge, Nathan Papa, Robert J MacInnis, Julie K Bassett, Damien Bolton, Ian D Davis, Jeremy Millar, Dallas R English, John L Hopper, Gianluca Severi, Melissa C Southey, Roger L Milne, Graham G Giles

Journal article  |  2019  |  Cancer Causes & Control

PURPOSE: Diet and body size may affect the risk of aggressive prostate cancer (APC), but current evidence is inconclusive. METHODS..

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Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool

Kelly-Anne Phillips, Yuyan Liao, Roger L Milne, Robert J MacInnis, Ian M Collins, Richard Buchsbaum, Prue C Weideman, Adrian Bickerstaffe, Stephanie Nesci, Wendy K Chung, Melissa C Southey, Julia A Knight, Alice S Whittemore, Gillian S Dite, David Goldgar, Graham G Giles, Gord Glendon, Jack Cuzick, Antonis C Antoniou, Irene L Andrulis, et al.

Journal article  |  2019  |  JNCI Cancer Spectrum

Background: iPrevent is an online breast cancer (BC) risk management decision support tool. It uses an internal switching algorith..

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Alcohol consumption, cigarette smoking, and familial breast cancer risk: findings from the Prospective Family Study Cohort (ProF-SC)

Nur Zeinomar, Julia A Knight, Jeanine M Genkinger, Kelly-Anne Phillips, Mary B Daly, Roger L Milne, Gillian S Dite, Rebecca D Kehm, Yuyan Liao, Melissa C Southey, Wendy K Chung, Graham G Giles, Sue-Anne McLachlan, Michael L Friedlander, Prue C Weideman, Gord Glendon, Stephanie Nesci, Irene L Andrulis, Saundra S Buys, Esther M John, et al.

Journal article  |  2019  |  Breast Cancer Research

BACKGROUND: Alcohol consumption and cigarette smoking are associated with an increased risk of breast cancer (BC), but it is uncle..

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Development and validation of a targeted gene sequencing panel for application to disparate cancers

Mark J McCabe, Marie-Emilie A Gauthier, Chia-Ling Chan, Tanya J Thompson, Sunita MC De Sousa, Clare Puttick, John P Grady, Velimir Gayevskiy, Jiang Tao, Kevin Ying, Arcadi Cipponi, Niantao Deng, Alex Swarbrick, Melissa L Thomas, undefined kConFab, Reginald V Lord, Amber L Johns, Maija Kohonen-Corish, Sandra A O'Toole, Jonathan Clark, et al.

Journal article  |  2019  |  Scientific Reports

Next generation sequencing has revolutionised genomic studies of cancer, having facilitated the development of precision oncology ..

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Interval breast cancer risk associations with breast density, family history and breast tissue aging

Tuong L Nguyen, Shuai Li, Gillian S Dite, Ye K Aung, Christopher F Evans, Ho N Trinh, Laura Baglietto, Jennifer Stone, Yun-Mi Song, Joohon Sung, Dallas R English, Mark A Jenkins, Pierre-Antoine Dugue, Roger L Milne, Melissa C Southey, Graham G Giles, Malcolm C Pike, John L Hopper

Journal article  |  2019  |  International Journal of Cancer

Interval breast cancers (those diagnosed between recommended mammography screens) generally have poorer outcomes and are more comm..

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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca, Sandra Viz Lasheras, Roser Pujol, Johanna Kiiski, Taru A Muranen, Daniel R Barnes, Joe Dennis, Kyriaki Michailidou, Manjeet K Bolla, Goska Leslie, Cora M Aalfs, Muriel A Adank, Julian Adlard, Simona Agata, Karen Cadoo, Bjarni A Agnarsson, Thomas Ahearn, et al.

Journal article  |  2019  |  npj Breast Cancer

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1..

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Genome-wide association study of peripheral blood DNA methylation and conventional mammographic density measures

Shuai Li, Pierre-Antoine Dugue, Laura Baglietto, Gianluca Severi, Ee Ming Wong, Tuong L Nguyen, Jennifer Stone, Dallas R English, Melissa C Southey, Graham G Giles, John L Hopper, Roger L Milne

Journal article  |  2019  |  International Journal of Cancer

Age- and body mass index (BMI)-adjusted mammographic density is one of the strongest breast cancer risk factors. DNA methylation i..

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Smoking and blood DNA methylation: an epigenome-wide association study and assessment of reversibility

Pierre-Antoine Dugue, Chol-Hee Jung, Jihoon E Joo, Xiaochuan Wang, Ee Ming Wong, Enes Makalic, Daniel F Schmidt, Laura Baglietto, Gianluca Severi, Melissa C Southey, Dallas R English, Graham G Giles, Roger L Milne

Journal article  |  2019  |  Epigenetics

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Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort

Nur Zeinomar, Kelly-Anne Phillips, Mary B Daly, Roger L Milne, Gillian S Dite, Robert J MacInnis, Yuyan Liao, Rebecca D Kehm, Julia A Knight, Melissa C Southey, Wendy K Chung, Graham G Giles, Sue-Anne McLachlan, Michael L Friedlander, Prue C Weideman, Gord Glendon, Stephanie Nesci, Irene L Andrulis, Saundra S Buys, Esther M John, et al.

Journal article  |  2019  |  International Journal of Cancer

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Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

Xiang Shu, Lang Wu, Nikhil K Khankari, Xiao-Ou Shu, Thomas J Wang, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Roger L Milne, Marjanka K Schmidt, Paul DP Pharoah, Irene L Andrulis, David J Hunter, Jacques Simard, Douglas F Easton, Wei Zheng, Beeghly-Fadiel J Alicia, Hoda Anton-Culver, Natalia N Antonenkova, et al.

Journal article  |  2019  |  International Journal of Epidemiology

Background: In addition to the established association between general obesity and breast cancer risk, central obesity and circula..

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Incident Chronic Kidney Disease After Radical Nephrectomy for Renal Cell Carcinoma

Robert J Ellis, Victoria M White, Damien M Bolton, Michael D Coory, Ian D Davis, Ross S Francis, Graham G Giles, Glenda C Gobe, David JT Marco, Rachel E Neale, Simon T Wood, Susan J Jordan, Graham Giles, Victoria White, Michael Coory, Jeremy Millar, Damien Bolton, Ian Davis, Ingrid Winship, Ian Roos, et al.

Journal article  |  2019  |  Clinical Genitourinary Cancer

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Dietary Intake of Nutrients Involved in One-Carbon Metabolism and Risk of Gastric Cancer: A Prospective Study

Pierre-Antoine Dugue, Julie K Bassett, Maree T Brinkman, Melissa C Southey, Jihoon E Joo, Ee Ming Wong, Roger L Milne, Dallas R English, Graham G Giles, Alex Boussioutas, Hazel Mitchell, Allison M Hodge

Journal article  |  2019  |  Nutrition and Cancer

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Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study

Rebecca D Kehm, John L Hopper, Esther M John, Kelly-Anne Phillips, Robert J MacInnis, Gillian S Dite, Roger L Milne, Yuyan Liao, Nur Zeinomar, Julia A Knight, Melissa C Southey, Linda Vahdat, Naomi Kornhauser, Tessa Cigler, Wendy K Chung, Graham G Giles, Sue-Anne McLachlan, Michael L Friedlander, Prue C Weideman, Gord Glendon, et al.

Journal article  |  2019  |  Breast Cancer Research

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Circulating concentrations of B group vitamins and urothelial cell carcinoma

Julie K Bassett, Maree T Brinkman, Pierre-Antoine Dugue, Per M Ueland, Oivind Midttun, Arve Ulvik, Damien Bolton, Melissa C Southey, Dallas R English, Roger L Milne, Allison M Hodge, Graham G Giles

Journal article  |  2019  |  International Journal of Cancer

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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Manuel A Ferreira, Eric R Gamazon, Fares Al-Ejeh, Kristiina Aittomaki, Irene L Andrulis, Hoda Anton-Culver, Adalgeir Arason, Volker Arndt, Kristan J Aronson, Banu K Arun, Ella Asseryanis, Jacopo Azzollini, Judith Balmana, Daniel R Barnes, Daniel Barrowdale, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Katarzyna Bialkowska, et al.

Journal article  |  2019  |  NATURE COMMUNICATIONS

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Assessing the ProMCol classifier as a prognostic marker for non-metastatic colorectal cancer within the Melbourne Collaborative Cohort Study

Jihoon E Joo, Harindra Jayasekara, Ee Ming Wong, Mark Clendenning, Christophe Rosty, Ingrid M Winship, Mark A Jenkins, John L Hopper, Dallas R English, Roger L Milne, Graham G Giles, Melissa C Southey, Daniel D Buchanan

Journal article  |  2019  |  Gut

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10-year performance of four models of breast cancer risk:a validation study

Mary Beth Terry, Yuyan Liao, Alice S Whittemore, Nicole Leoce, Richard Buchsbaum, Nur Zeinotnar, Gillian S Dite, Wendy K Chung, Julia A Knight, Melissa C Southey, Roger L Milne, David Goldgar, Graham G Giles, Sue-Anne McLachlan, Michael L Friedlander, Prue C Weideman, Gord Glendon, Stephanie Nesci, Irene L Andrulis, Esther M John, et al.

Journal article  |  2019  |  The Lancet Oncology

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Genome-wide association study of germline variants and breast cancer-specific mortality

Maria Escala-Garcia, Qi Guo, Thilo Doerk, Sander Canisius, Renske Keeman, Joe Dennis, Jonathan Beesley, Julie Lecarpentier, Manjeet K Bolla, Qin Wang, Jean Abraham, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Paul L Auer, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Leslie Bernstein, et al.

Journal article  |  2019  |  British Journal of Cancer

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Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk

Mary Beth Terry, Mary B Daly, Kelly Anne Phillips, Xinran Ma, Nur Zeinomar, Nicole Leoce, Gillian S Dite, Robert J MacInnis, Wendy K Chung, Julia A Knight, Melissa C Southey, Roger L Milne, David Goldgar, Graham G Giles, Prue C Weideman, Gord Glendon, Richard Buchsbaum, Irene L Andrulis, Esther M John, Saundra S Buys, et al.

Journal article  |  2019  |  JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

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Early-life exposure to sibling modifies the relationship between CD14 polymorphisms and allergic sensitization

Melisa YZ Lau, Shyamali C Dharmage, John A Burgess, Aung K Win, Adrian J Lowe, Caroline J Lodge, Jennifer Perret, Jennie Hui, Paul S Thomas, Graham Giles, Bruce R Thompson, Michael J Abramson, E Haydn Walters, Melanie C Matheson, Katrina J Allen, Geza Benke, James G Dowty, Bircan Erbas, Iain H Feather, Peter A Frith, et al.

Journal article  |  2019  |  CLINICAL AND EXPERIMENTAL ALLERGY

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Physical Activity, Television Viewing Time, and DNA Methylation in Peripheral Blood

Eline H van Roekel, Pierre-Antoine Dugue, Chol-Hee Jung, Jihoon E Joo, Enes Makalic, Ee Ming Wong, Dallas R English, Melissa C Southey, Graham G Giles, Brigid M Lynch, Roger L Milne

Journal article  |  2019  |  Medicine & Science in Sports & Exercise

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Inference about causation between body mass index and DNA methylation in blood from a twin family study

Shuai Li, Ee Ming Wong, Minh Bui, Tuong L Nguyen, Ji-Hoon Eric Joo, Jennifer Stone, Gillian S Dite, Pierre-Antoine Dugue, Roger L Milne, Graham G Giles, Richard Saffery, Melissa C Southey, John L Hopper

Journal article  |  2019  |  International Journal of Obesity

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Shared heritability and functional enrichment across six solid cancers

Xia Jiang, Hilary K Finucane, Fredrick R Schumacher, Stephanie L Schmit, Jonathan P Tyrer, Younghun Han, Kyriaki Michailidou, Corina Lesseur, Karoline B Kuchenbaecker, Joe Dennis, David V Conti, Graham Casey, Mia M Gaudet, Jeroen R Huyghe, Demetrius Albanes, Melinda C Aldrich, Angeline S Andrew, Irene L Andrulis, Hoda Anton-Culver, Antonis C Antoniou, et al.

Journal article  |  2019  |  NATURE COMMUNICATIONS

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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Nasim Mavaddat, Kyriaki Michailidou, Joe Dennis, Michael Lush, Laura Fachal, Andrew Lee, Jonathan P Tyrer, Ting-Huei Chen, Qin Wang, Manjeet K Bolla, Xin Yang, Muriel A Adank, Thomas Ahearn, Kristiina Aittomaki, Jamie Allen, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, et al.

Journal article  |  2019  |  The American Journal of Human Genetics

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Discovery of common and rare genetic risk variants for colorectal cancer

Jeroen R Huyghe, Stephanie A Bien, Tabitha A Harrison, Hyun Min Kang, Sai Chen, Stephanie L Schmit, David V Conti, Conghui Qu, Jihyoun Jeon, Christopher K Edlund, Peyton Greenside, Michael Wainberg, Fredrick R Schumacher, Joshua D Smith, David M Levine, Sarah C Nelson, Nasa A Sinnott-Armstrong, Demetrius Albanes, M Henar Alonso, Kristin Anderson, et al.

Journal article  |  2019  |  NATURE GENETICS

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Predicting interval and screen-detected breast cancers from mammographic density defined by different brightness thresholds

Tuong L Nguyen, Ye K Aung, Shuai Li, Ho Trinh Nhut, Christopher F Evans, Laura Baglietto, Kavitha Krishnan, Gillian S Dite, Jennifer Stone, Dallas R English, Yun-Mi Song, Joohon Sung, Mark A Jenkins, Melissa C Southey, Graham G Giles, John L Hopper

Journal article  |  2018  |  BREAST CANCER RESEARCH

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Genome-wide DNA methylation assessment of 'BRCA1-like' early-onset breast cancer: Data from the Australian Breast Cancer Family Registry

Cameron M Scott, Ee Ming Wong, JiHoon Eric Joo, Pierre-Antoine Dugue, Chol-Hee Jung, Neil O'Callaghan, James Dowty, Graham G Giles, John L Hopper, Melissa C Southey

Journal article  |  2018  |  Experimental and Molecular Pathology

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Age-specific breast cancer risk by body mass index and familial risk: prospective family study cohort (ProF-SC)

John L Hopper, Gillian S Dite, Robert J MacInnis, Yuyan Liao, Nur Zeinomar, Julia A Knight, Melissa C Southey, Roger L Milne, Wendy K Chung, Graham G Giles, Jeanine M Genkinger, Sue-Anne McLachlan, Michael L Friedlander, Antonis C Antoniou, Prue C Weideman, Gord Glendon, Stephanie Nesci, Irene L Andrulis, Saundra S Buys, Mary B Daly, et al.

Journal article  |  2018  |  Breast Cancer Research

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sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data

Chol-Hee Jung, Daniel J Park, Peter Georgeson, Khalid Mahmood, Roger L Milne, Melissa C Southey, Bernard J Pope

Journal article  |  2018  |  International Journal of Molecular Sciences

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Heritable methylation marks associated with breast and prostate cancer risk

Pierre-Antoine Dugue, James G Dowty, Jihoon E Joo, Ee M Wong, Enes Makalic, Daniel F Schmidt, Dallas R English, John L Hopper, John Pedersen, Gianluca Severi, Robert J MacInnis, Roger L Milne, Graham G Giles, Melissa C Southey

Journal article  |  2018  |  The Prostate

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A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

Yingchang Lu, Alicia Beeghly-Fadiel, Lang Wu, Xingyi Guo, Bingshan Li, Joellen M Schildkraut, Hae Kyung Im, Yian A Chen, Jennifer B Permuth, Brett M Reid, Jamie K Teer, Kirsten B Moysich, Irene L Andrulis, Hoda Anton-Culver, Banu K Arun, Elisa V Bandera, Rosa B Barkardottir, Daniel R Barnes, Javier Benitez, Line Bjorge, et al.

Journal article  |  2018  |  Cancer Research

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Dietary intake of one-carbon metabolism nutrients and DNA methylation in peripheral blood

James A Chamberlain, Pierre-Antoine Dugue, Julie K Bassett, Allison M Hodge, Maree T Brinkman, JiHoon E Joo, Chol-Hee Jung, Enes Makalic, Daniel F Schmidt, John L Hopper, Daniel D Buchanan, Dallas R English, Melissa C Southey, Graham G Giles, Roger L Milne

Journal article  |  2018  |  The American Journal of Clinical Nutrition

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rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology

Linda E Kelemen, Madalene Earp, Brooke L Fridley, Georgia Chenevix-Trench, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Alexander Hein, Diether Lambrechts, Sandrina Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Mary Anne Rossing, Jennifer A Doherty, Jenny Chang-Claude, Sabine Behrens, Kirsten B Moysich, Rikki Cannioto, Shashikant Lele, Kunle Odunsi, et al.

Journal article  |  2018  |  International Journal of Molecular Sciences

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Identification of nine new susceptibility loci for endometrial cancer

Tracy A O'Mara, Dylan M Glubb, Frederic Amant, Daniela Annibali, Katie Ashton, John Attia, Paul L Auer, Matthias W Beckmann, Amanda Black, Manjeet K Bolla, Hiltrud Brauch, Hermann Brenner, Louise Brinton, Daniel D Buchanan, Barbara Burwinkel, Jenny Chang-Claude, Stephen J Chanock, Chu Chen, Maxine M Chen, Timothy HT Cheng, et al.

Journal article  |  2018  |  Nature Communications

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Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

Daniel D Buchanan, Jenna R Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Bernard J Pope, Mark A Jenkins, John L Hopper, Melissa C Southey, Finlay A Macrae, Ingrid M Winship, Aung Ko Win

Journal article  |  2018  |  GENETICS IN MEDICINE

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Dietary intake of nutrients involved in one-carbon metabolism and risk of urothelial cell carcinoma: A prospective cohort study

Pierre-Antoine Dugue, Maree T Brinkman, Allison M Hodge, Julie K Bassett, Damien Bolton, Anthony Longano, John L Hopper, Melissa C Southey, Dallas R English, Roger L Milne, Graham G Giles

Journal article  |  2018  |  International Journal of Cancer

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HLA Class I and II Diversity Contributes to the Etiologic Heterogeneity of Non-Hodgkin Lymphoma Subtypes

Sophia S Wang, Mary Carrington, Sonja I Berndt, Susan L Slager, Paige M Bracci, Jenna Voutsinas, James R Cerhan, Karin E Smedby, Henrik Hjalgrim, Joseph Vijai, Lindsay M Morton, Roel Vermeulen, Ora Paltiel, Claire M Vajdic, Martha S Linet, Alexandra Nieters, Silvia de Sanjose, Wendy Cozen, Elizabeth E Brown, Jennifer Turner, et al.

Journal article  |  2018  |  Cancer Research

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Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility

Madalene Earp, Jonathan P Tyrer, Stacey J Winham, Hui-Yi Lin, Ganna Chornokur, Joe Dennis, Katja KH Aben, Hoda Anton-Culver, Natalia Antonenkova, Elisa V Bandera, Yukie T Bean, Matthias W Beckmann, Line Bjorge, Natalia Bogdanova, Louise A Brinton, Angela Brooks-Wilson, Fiona Bruinsma, Clareann H Bunker, Ralf Butzow, Ian G Campbell, et al.

Journal article  |  2018  |  PLOS ONE

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A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Lang Wu, Wei Shi, Jirong Long, Xingyi Guo, Kyriaki Michailidou, Jonathan Beesley, Manjeet K Bolla, Xiao-Ou Shu, Yingchang Lu, Qiuyin Cai, Fares Al-Ejeh, Esdy Rozali, Qin Wang, Joe Dennis, Bingshan Li, Chenjie Zeng, Helian Feng, Alexander Gusev, Richard T Barfield, Irene L Andrulis, et al.

Journal article  |  2018  |  Nature Genetics

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Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

Aleksander Myszka, Nguyen-Dumont Tu, Pawel Karpinski, Maria M Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C Southey

Journal article  |  2018  |  FAMILIAL CANCER

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Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Fredrick R Schumacher, Ali Amin Al Olama, Sonja I Berndt, Sara Benlloch, Mahbubl Ahmed, Edward J Saunders, Tokhir Dadaev, Daniel Leongamornlert, Ezequiel Anokian, Clara Cieza-Borrella, Chee Goh, Mark N Brook, Xin Sheng, Laura Fachal, Joe Dennis, Jonathan Tyrer, Kenneth Muir, Artitaya Lophatananon, Victoria L Stevens, Susan M Gapstur, et al.

Journal article  |  2018  |  Nature Genetics

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Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

Tokhir Dadaev, Edward J Saunders, Paul J Newcombe, Ezequiel Anokian, Daniel A Leongamornlert, Mark N Brook, Clara Cieza-Borrella, Martina Mijuskovic, Sarah Wakerell, Ali Amin Al Olama, Fredrick R Schumacher, Sonja I Berndt, Sara Benlloch, Mahbubl Ahmed, Chee Goh, Xin Sheng, Zhuo Zhang, Kenneth Muir, Koveela Govindasami, Artitaya Lophatananon, et al.

Journal article  |  2018  |  Nature Communications

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Germline variants in IL4, MGMT and AKT1 are associated with prostate cancer-specific mortality: An analysis of 12,082 prostate cancer cases

LM FitzGerald, S Zhao, A Leonardson, MS Geybels, S Kolb, DW Lin, JL Wright, R Eeles, Z Kote-Jarai, K Govindasami, GG Giles, MC Southey, J Schleutker, TL Tammela, C Sipeky, KL Penney, MJ Stampfer, H Gronberg, F Wiklund, P Stattin, et al.

Journal article  |  2018  |  Prostate Cancer and Prostatic Diseases

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Genome-wide average DNA methylation is determined in utero

Shuai Li, Ee Ming Wong, Pierre-Antoine Dugue, Allan F McRae, Eunae Kim, Ji-Hoon Eric Joo, Tuong L Nguyen, Jennifer Stone, Gillian S Dite, Nicola J Armstrong, Karen A Mather, Anbupalam Thalamuthu, Margaret J Wright, David Ames, Roger L Milne, Jeffrey M Craig, Richard Saffery, Grant W Montgomery, Yun-Mi Song, Joohon Sung, et al.

Journal article  |  2018  |  International Journal of Epidemiology

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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Mara Colombo, Irene Lopez-Perolio, Huong D Meeks, Laura Caleca, Michael T Parsons, Hongyan Li, Giovanna De Vecchi, Emma Tudini, Claudia Foglia, Patrizia Mondini, Siranoush Manoukian, Raquel Behar, Encarna B Gomez Garcia, Alfons Meindl, Marco Montagna, Dieter Niederacher, Ane Y Schmidt, Liliana Varesco, Barbara Wappenschmidt, Manjeet K Bolla, et al.

Journal article  |  2018  |  HUMAN MUTATION

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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I Olopade, Angela R Solano, Soo-Hwang Teo, Mads Thomassen, Jeffrey N Weitzel, TL Chan, Fergus J Couch, David E Goldgar, Torben A Kruse, Edenir Inez Palmero, Sue Kyung Park, Diana Torres, Elizabeth J van Rensburg, et al.

Journal article  |  2018  |  Human Mutation

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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Mara Colombo, Irene Lòpez-Perolio, Huong D Meeks, Laura Caleca, Michael T Parsons, Hongyan Li, Giovanna De Vecchi, Emma Tudini, Claudia Foglia, Patrizia Mondini, Siranoush Manoukian, Raquel Behar, Encarna B Gómez Garcia, Alfons Meindl, Marco Montagna, Dieter Niederacher, Ane Y Schmidt, Liliana Varesco, Barbara Wappenschmidt, Manjeet K Bolla, et al.

Journal article  |  2018  |  Human Mutation

Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains ..

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DNA methylation-based biological aging and cancer risk and survival: Pooled analysis of seven prospective studies

Pierre-Antoine Dugue, Julie K Bassett, JiHoon E Joo, Chol-Hee Jung, Ee Ming Wong, Margarita Moreno-Betancur, Daniel Schmidt, Enes Makalic, Shuai Li, Gianluca Severi, Allison M Hodge, Daniel D Buchanan, Dallas R English, John L Hopper, Melissa C Southey, Graham G Giles, Roger L Milne

Journal article  |  2018  |  International Journal of Cancer

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Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

Maya Ghoussaini, Stacey L Edwards, Kyriaki Michailidou, Silje Nord, Richard Cowper-Sal Lari, Kinjal Desai, Siddhartha Kar, Kristine M Hillman, Susanne Kaufmann, Dylan M Glubb, Jonathan Beesley, Joe Dennis, Manjeet K Bolla, Qin Wang, Ed Dicks, Qi Guo, Marjanka K Schmidt, Mitul Shah, Robert Luben, Judith Brown, et al.

Journal article  |  2018  |  Nature Communications

This corrects the article DOI: 10.1038/ncomms5999.

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Obtaining high quality transcriptome data from formalin-fixed, paraffin-embedded diagnostic prostate tumor specimens

Liesel M FitzGerald, Chol-hee Jung, Ee Ming Wong, JiHoon E Joo, Jodee A Gould, Vivien Vasic, Julie K Bassett, Neil O'Callaghan, Tim Nottle, John Pedersen, Graham G Giles, Melissa C Southey

Journal article  |  2018  |  Laboratory Investigation

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Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

Lieske H Schrijver, Hakan Olsson, Kelly-Anne Phillips, Mary Beth Terry, David E Goldgar, Karin Kast, Christoph Engel, Thea M Mooij, Julian Adlard, Daniel Barrowdale, Rosemarie Davidson, Ros Eeles, Steve Ellis, D Gareth Evans, Debra Frost, Louise Izatt, Mary E Porteous, Lucy E Side, Lisa Walker, Pascaline Berthet, et al.

Journal article  |  2018  |  JNCI Cancer Spectrum

Background: For BRCA1 and BRCA2 mutation carriers, the association between oral contraceptive preparation (OCP) use and breast can..

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Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium

Anja Rudolph, Minsun Song, Mark N Brook, Roger L Milne, Nasim Mavaddat, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Amber N Wilcox, John L Hopper, Melissa C Southey, Renske Keeman, Peter A Fasching, Matthias W Beckmann, Manuela Gago-Dominguez, Jose E Castelao, Pascal Guenel, Therese Truong, Stig E Bojesen, et al.

Journal article  |  2018  |  International Journal of Epidemiology

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Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study

Suzanne C Dixon-Suen, Christina M Nagle, Aaron P Thrift, Paul DP Pharoah, Ailith Ewing, Celeste Leigh Pearce, Wei Zheng, Georgia Chenevix-Trench, Peter A Fasching, Matthias W Beckmann, Diether Lambrechts, Ignace Vergote, Sandrina Lambrechts, Els Van Nieuwenhuysen, Mary Anne Rossing, Jennifer A Doherty, Kristine G Wicklund, Jenny Chang-Claude, Audrey Y Jung, Kirsten B Moysich, et al.

Journal article  |  2018  |  British Journal of Cancer

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Novel associations between blood DNA methylation and body mass index in middle-aged and older adults

YM Geurts, P-A Dugue, JE Joo, E Makalic, C-H Jung, W Guan, S Nguyen, ML Grove, EM Wong, AM Hodge, JK Bassett, LM FitzGerald, H Tsimiklis, L Baglietto, G Severi, DF Schmidt, DD Buchanan, RJ MacInnis, JL Hopper, JS Pankow, et al.

Journal article  |  2018  |  International Journal of Obesity

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Association of DNA Methylation-Based Biological Age With Health Risk Factors and Overall and Cause-Specific Mortality

Pierre-Antoine Dugue, Julie K Bassett, JiHoon E Joo, Laura Baglietto, Chol-Hee Jung, Ee Ming Wong, Giovanni Fiorito, Daniel Schmidt, Enes Makalic, Shuai Li, Margarita Moreno-Betancur, Daniel D Buchanan, Paolo Vineis, Dallas R English, John L Hopper, Gianluca Severi, Melissa C Southey, Graham G Giles, Roger L Milne

Journal article  |  2018  |  American Journal of Epidemiology

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Heritable DNA methylation marks associated with susceptibility to breast cancer

Jihoon E Joo, James G Dowty, Roger L Milne, Ee Ming Wong, Pierre-Antoine Dugue, Dallas English, John L Hopper, David E Goldgar, Graham G Giles, Melissa C Southey

Journal article  |  2018  |  NATURE COMMUNICATIONS

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Causal effect of smoking on DNA methylation in peripheral blood: a twin and family study

Shuai Li, Ee Ming Wong, Minh Bui, Tuong L Nguyen, Ji-Hoon Eric Joo, Jennifer Stone, Gillian S Dite, Graham G Giles, Richard Saffery, Melissa C Southey, John L Hopper

Journal article  |  2018  |  CLINICAL EPIGENETICS

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Is RNASEL:p.Glu265*a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

Tu Nguyen-Dumont, Zhi L Teo, Fleur Hammet, Alexis Roberge, Maryam Mahmoodi, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Andrew Lonie, Miroslav K Kapuscinski, Khalid Mahmood, David E Goldgar, Graham G Giles, Ingrid Winship, John L Hopper, Melissa C Southey

Journal article  |  2018  |  BMC Cancer

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FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

Nguyen-Dumont Tu, Aleksander Myszka, Pawel Karpinski, Maria M Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C Southey

Journal article  |  2018  |  BMC Medical Genetics

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Associations of alcohol intake, smoking, physical activity and obesity with survival following colorectal cancer diagnosis by stage, anatomic site and tumor molecular subtype

Harindra Jayasekara, Dallas R English, Andrew Haydon, Allison M Hodge, Brigid M Lynch, Christophe Rosty, Elizabeth J Williamson, Mark Clendenning, Melissa C Southey, Mark A Jenkins, Robin Room, John L Hopper, Roger L Milne, Daniel D Buchanan, Graham G Giles, Robert J MacInnis

Journal article  |  2018  |  International Journal of Cancer

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Epigenetic supersimilarity of monozygotic twin pairs

Timothy E Van Baak, Cristian Coarfa, Pierre-Antoine Dugue, Giovanni Fiorito, Eleonora Laritsky, Maria S Baker, Noah J Kessler, Jianrong Dong, Jack D Duryea, Matt J Silver, Ayden Saffari, Andrew M Prentice, Sophie E Moore, Akram Ghantous, Michael N Routledge, Yun Yun Gong, Zdenko Herceg, Paolo Vineis, Gianluca Severi, John L Hopper, et al.

Journal article  |  2018  |  Genome Biology

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The utility of DNA extracted from saliva for genome-wide molecular research platforms.

Fiona J Bruinsma, Jihoon E Joo, Ee Ming Wong, Graham G Giles, Melissa C Southey

Journal article  |  2018  |  BMC Research Notes

OBJECTIVE: The study aimed to investigate the suitability of DNA extracted from saliva for high throughput molecular genotyping an..

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Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas

Mark Clendenning, Alvin Huang, Harindra Jayasekara, Marie Lorans, Susan Preston, Neil O'Callaghan, Bernard J Pope, Finlay A Macrae, Ingrid M Winship, Roger L Milne, Graham G Giles, Dallas R English, John L Hopper, Aung K Win, Mark A Jenkins, Melissa C Southey, Christophe Rosty, Daniel D Buchanan

Journal article  |  2018  |  FAMILIAL CANCER

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Mammographic density and risk of breast cancer by tumor characteristics: a case-control study

Kavitha Krishnan, Laura Baglietto, Jennifer Stone, Catriona McLean, Melissa C Southey, Dallas R English, Graham G Giles, John L Hopper

Journal article  |  2017  |  BMC Cancer

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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindstrom, Shirley Hui, Audrey Lemacon, Penny Soucy, Joe Dennis, Xia Jiang, Asha Rostamianfar, Hilary Finucane, Manjeet K Bolla, Lesley McGuffog, Qin Wang, Cora M Aalfs, Marcia Adams, Julian Adlard, Simona Agata, et al.

Journal article  |  2017  |  Nature Genetics

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Cohort Profile: The Melbourne Collaborative Cohort Study (Health 2020)

RL Milne, AS Fletcher, RJ MacInnis, AM Hodge, AH Hopkins, JK Bassett, FJ Bruinsma, BM Lynch, PA Dugue, H Jayasekara, MT Brinkman, LV Popowski, L Baglietto, G Severi, K O'Dea, JL Hopper, MC Southey, DR English, GG Giles

Journal article  |  2017  |  International Journal of Epidemiology

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Body mass index and breast cancer survival: a Mendelian randomization analysis

Qi Guo, Stephen Burgess, Constance Turman, Manjeet K Bolla, Qin Wang, Michael Lush, Jean Abraham, Kristiina Aittomaki, Irene L Andrulis, Carmel Apicella, Volker Arndt, Myrto Barrdahl, Javier Benitez, Christine D Berg, Carl Blomqvist, Stig E Bojesen, Bernardo Bonanni, Judith S Brand, Hermann Brenner, Annegien Broeks, et al.

Journal article  |  2017  |  International Journal of Epidemiology

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PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1

Xiang Jiao, Christos Aravidis, Rajeshwari Marikkannu, Johanna Rantala, Simone Picelli, Tatjana Adamovic, Tao Liu, Paula Maguire, Barbara Kremeyer, Liping Luo, Susanna Von Holst, Vinaykumar Kontham, Jessada Thutkawkorapin, Sara Margolin, Quan Du, Johanna Lundin, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, et al.

Journal article  |  2017  |  Oncotarget

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Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study

Olivier Brouckaert, Anja Rudolph, Annouschka Laenen, Renske Keeman, Manjeet K Bolla, Qin Wang, Adelheid Soubry, Hans Wildiers, Irene L Andrulis, Volker Arndt, Matthias W Beckmann, Javier Benitez, Carl Blomqvist, Stig E Bojesen, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Georgia Chenevix-Trench, Ji-Yeob Choi, Sten Cornelissen, et al.

Journal article  |  2017  |  Breast Cancer Research

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Association analysis identifies 65 new breast cancer risk loci

Kyriaki Michailidou, Sara Lindstrom, Joe Dennis, Jonathan Beesley, Shirley Hui, Siddhartha Kar, Audrey Lemacon, Penny Soucy, Dylan Glubb, Asha Rostamianfar, Manjeet K Bolla, Qin Wang, Jonathan Tyrer, Ed Dicks, Andrew Lee, Zhaoming Wang, Jamie Allen, Renske Keeman, Ursula Eilber, Juliet D French, et al.

Journal article  |  2017  |  Nature

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Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium

Myrto Barrdahl, Anja Rudolph, John L Hopper, Melissa C Southey, Annegien Broeks, Peter A Fasching, Matthias W Beckmann, Manuela Gago-Dominguez, J Esteban Castelao, Pascal Guenel, Therese Truong, Stig E Bojesen, Susan M Gapstur, Mia M Gaudet, Hermann Brenner, Volker Arndt, Hiltrud Brauch, Ute Hamann, Arto Mannermaa, Diether Lambrechts, et al.

Journal article  |  2017  |  International Journal of Cancer

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Total and beverage-specific alcohol intake and the risk of aggressive prostate cancer: a case-control study

NP Papa, RJ MacInnis, H Jayasekara, DR English, D Bolton, ID Davis, N Lawrentschuk, JL Millar, J Pedersen, G Severi, MC Southey, JL Hopper, GG Giles

Journal article  |  2017  |  Prostate Cancer and Prostatic Diseases

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Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium

Artitaya Lophatananon, Sarah Stewart-Brown, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch Garcia, David E Neal, Freddie C Hamdy, Jenny L Donovan, Graham G Giles, Liesel M Fitzgerald, Melissa C Southey, Paul Pharoah, Nora Pashayan, Henrik Gronberg, Fredrik Wiklund, Markus Aly, Janet L Stanford, Hermann Brenner, Aida K Dieffenbach, Volker Arndt, et al.

Journal article  |  2017  |  British Journal of Cancer

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Twin birth changes DNA methylation of subsequent siblings

Shuai Li, Eunae Kim, Ee Ming Wong, Ji-Hoon Eric Joo, Tuong L Nguyen, Jennifer Stone, Yun-Mi Song, Louisa B Flander, Richard Saffery, Graham G Giles, Melissa C Southey, Joohon Sung, John L Hopper

Journal article  |  2017  |  SCIENTIFIC REPORTS

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Ejaculatory frequency and the risk of aggressive prostate cancer: Findings from a case-control study

Nathan P Papa, Robert J MacInnis, Dallas R English, Damien Bolton, Ian D Davis, Nathan Lawrentschuk, Jeremy L Millar, John Pedersen, Gianluca Severi, Melissa C Southey, John L Hopper, Graham G Giles

Journal article  |  2017  |  Urologic Oncology: Seminars and Original Investigations

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Antihypertensive medication use and breast cancer risk Reply

Yi Yang, Brigid M Lynch, Allison M Hodge, Danny Liew, Catriona A Mclean, Mathias Seviiri, Melissa C Southey, John L Hopper, Dallas R English, Graham G Giles, Roger L Milne, Pierre-Antoine Dugue

Journal article  |  2017  |  Journal of Hypertension

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Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

Julie Lecarpentier, Valentina Silvestri, Karoline B Kuchenbaecker, Daniel Barrowdale, Joe Dennis, Lesley McGuffog, Penny Soucy, Goska Leslie, Piera Rizzolo, Anna Sara Navazio, Virginia Valentini, Veronica Zelli, Andrew Lee, Ali Amin Al Olama, Jonathan P Tyrer, Melissa Southey, Esther M John, Thomas A Conner, David E Goldgar, Saundra S Buys, et al.

Journal article  |  2017  |  Journal of Clinical Oncology

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Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Karoline B Kuchenbaecker, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Penny Soucy, Joe Dennis, Susan M Domchek, Mark Robson, Amanda B Spurdle, Susan J Ramus, Nasim Mavaddat, Mary Beth Terry, Susan L Neuhausen, Rita Katharina Schmutzler, Jacques Simard, Paul DP Pharoah, Kenneth Offit, Fergus J Couch, Georgia Chenevix-Trench, Douglas F Easton, et al.

Journal article  |  2017  |  JNCI: Journal of the National Cancer Institute

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Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study

Maryam Mahmoodi, Nguyen-Dumont Tu, Fleur Hammet, Bernard J Pope, Daniel J Park, Melissa C Southey, John M Darlow, Fiona Bruinsma, Ingrid Winship

Journal article  |  2017  |  FAMILIAL CANCER

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Blood pressure and risk of breast cancer, overall and by subtypes: a prospective cohort study

Yi Yang, Brigid M Lynch, Allison M Hodge, Danny Liew, Catriona A Mclean, Mathias Seviiri, Melissa C Southey, John L Hopper, Dallas R English, Graham G Giles, Roger L Milne, Pierre-Antoine Dugue

Journal article  |  2017  |  Journal of Hypertension

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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

Karoline B Kuchenbaecker, John L Hopper, Daniel R Barnes, Kelly-Anne Phillips, Thea M Mooij, Marie-Jose Roos-Blom, Sarah Jervis, Flora E van Leeuwen, Roger L Milne, Nadine Andrieu, David E Goldgar, Mary Beth Terry, Matti A Rookus, Douglas F Easton, Antonis C Antoniou

Journal article  |  2017  |  JAMA

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Association between DNA methylation at SOCS3 gene and body mass index might be due to familial confounding

S Li, EM Wong, MC Southey, JL Hopper

Journal article  |  2017  |  International Journal of Obesity

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BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Hermela Shimelis, Romy LS Mesman, Catharina Von Nicolai, Asa Ehlen, Lucia Guidugli, Charlotte Martin, Fabienne MGR Calleja, Huong Meeks, Emily Hallberg, Jamie Hinton, Jenna Lilyquist, Chunling Hu, Cora M Aalfs, Kristiina Aittomaki, Irene Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Javier Benitez, Natalia V Bogdanova, et al.

Journal article  |  2017  |  Cancer Research

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Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Felix R Day, Deborah J Thompson, Hannes Helgason, Daniel I Chasman, Hilary Finucane, Patrick Sulem, Katherine S Ruth, Sean Whalen, Abhishek K Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina M Barbieri, Thibaud Boutin, Archie Campbell, Ellen Demerath, Ayush Giri, Chunyan He, Jouke J Hottenga, Robert Karlsson, et al.

Journal article  |  2017  |  Nature Genetics

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Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

Taru A Muranen, Dario Greco, Carl Blomqvist, Kristiina Aittomaki, Sofia Khan, Frans Hogervorst, Senno Verhoef, Paul DP Pharoah, Alison M Dunning, Mitul Shah, Robert Luben, Stig E Bojesen, Borge G Nordestgaard, Minouk Schoemaker, Anthony Swerdlow, Montserrat Garcia-Closas, Jonine Figueroa, Thilo Doerk, Natalia V Bogdanova, Per Hall, et al.

Journal article  |  2017  |  Genetics in Medicine

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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Catherine M Phelan, Karoline B Kuchenbaecker, Jonathan P Tyrer, Siddhartha P Kar, Kate Lawrenson, Stacey J Winham, Joe Dennis, Ailith Pirie, Marjorie J Riggan, Ganna Chornokur, Madalene A Earp, Paulo C Lyra, Janet M Lee, Simon Coetzee, Jonathan Beesley, Lesley McGuffog, Penny Soucy, Ed Dicks, Andrew Lee, Daniel Barrowdale, et al.

Journal article  |  2017  |  Nature Genetics

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Genome-Wide Measures of Peripheral Blood Dna Methylation and Prostate Cancer Risk in a Prospective Nested Case-Control Study

Liesel M FitzGerald, Haroon Naeem, Enes Makalic, Daniel F Schmidt, James G Dowty, Jihoon E Joo, Chol-Hee Jung, Julie K Bassett, Pierre-Antoine Dugue, Jessica Chung, Andrew Lonie, Roger L Milne, Ee Ming Wong, John L Hopper, Dallas R English, Gianluca Severi, Laura Baglietto, John Pedersen, Graham G Giles, Melissa C Southey

Journal article  |  2017  |  The Prostate

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Mammographic density defined by higher than conventional brightness thresholds better predicts breast cancer risk

Tuong L Nguyen, Ye K Aung, Christopher F Evans, Gillian S Dite, Jennifer Stone, Robert J MacInnis, James G Dowty, Adrian Bickerstaffe, Kelly Aujard, Johanna M Rommens, Yun-Mi Song, Joohon Sung, Mark A Jenkins, Melissa C Southey, Graham G Giles, Carmel Apicella, John L Hopper

Journal article  |  2017  |  INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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Lifetime alcohol intake is associated with an increased risk of KRAS plus and BRAF-/KRAS- but not BRAF plus colorectal cancer

Harindra Jayasekara, Robert J MacInnis, Elizabeth J Williamson, Allison M Hodge, Mark Clendenning, Christophe Rosty, Rhiannon Walters, Robin Room, Melissa C Southey, Mark A Jenkins, Roger L Milne, John L Hopper, Graham G Giles, Daniel D Buchanan, Dallas R English

Journal article  |  2017  |  International Journal of Cancer

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Cohort Profile: The Tasmanian Longitudinal Health STUDY (TAHS)

Melanie C Matheson, Michael J Abramson, Katrina Allen, Geza Benke, John A Burgess, James G Dowty, Bircan Erbas, Iain H Feather, Peter A Frith, Graham G Giles, Lyle C Gurrin, Garun S Hamilton, John L Hopper, Alan L James, Mark A Jenkins, David P Johns, Caroline J Lodge, Adrian J Lowe, James Markos, Stephen C Morrison, et al.

Journal article  |  2017  |  INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry

Logan C Walker, John F Pearson, George AR Wiggins, Graham G Giles, John L Hopper, Melissa C Southey

Journal article  |  2017  |  BREAST CANCER RESEARCH

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Testing for Gene-Environment Interactions Using a Prospective Family Cohort Design: Body Mass Index in Early and Later Adulthood and Risk of Breast Cancer

Gillian S Dite, Robert J MacInnis, Adrian Bickerstaffe, James G Dowty, Roger L Milne, Antonis C Antoniou, Prue Weideman, Carmel Apicella, Graham G Giles, Melissa C Southey, Mark A Jenkins, Kelly-Anne Phillips, Aung Ko Win, Mary Beth Terry, John L Hopper

Journal article  |  2017  |  American Journal of Epidemiology

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TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

Rainer Fagerholm, Sofia Khan, Marjanka K Schmidt, Montserrat Garcia-Closas, Pavi Heikkila, Jani Saarela, Jonathan Beesley, Maral Jamshidi, Kristiina Aittomaki, Jianjun Liu, H Raza Ali, Irene L Andrulis, Matthias W Beckmann, Sabine Behrens, Fiona M Blows, Hermann Brenner, Jenny Chang-Claude, Fergus J Couch, Kamila Czene, Peter A Fasching, et al.

Journal article  |  2017  |  Oncotarget

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Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci

Siddhartha P Kar, Emily Adler, Jonathan Tyrer, Dennis Hazelett, Hoda Anton-Culver, Elisa V Bandera, Matthias W Beckmann, Andrew Berchuck, Natalia Bogdanova, Louise Brinton, Ralf Butzow, Ian Campbell, Karen Carty, Jenny Chang-Claude, Linda S Cook, Daniel W Cramer, Julie M Cunningham, Agnieszka Dansonka-Mieszkowska, Jennifer Anne Doherty, Thilo Doerk, et al.

Journal article  |  2017  |  British Journal of Cancer

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Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

Phillip J Law, Sonja I Berndt, Helen E Speedy, Nicola J Camp, Georgina P Sava, Christine F Skibola, Amy Holroyd, Vijai Joseph, Nicola J Sunter, Alexandra Nieters, Silvia Bea, Alain Monnereau, David Martin-Garcia, Lynn R Goldin, Guillem Clot, Lauren R Teras, Ines Quintela, Brenda M Birmann, Sandrine Jayne, Wendy Cozen, et al.

Journal article  |  2017  |  Nature Communications

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Cohort Profile: Melbourne Atopy Cohort study (MACS)

Adrian J Lowe, Caroline J Lodge, Katrina J Allen, Michael J Abramson, Melanie C Matheson, Paul S Thomas, Christopher A Barton, Catherine M Bennett, Bircan Erbas, Cecilie Svanes, Mathias Wjst, Francisco Gomez Real, Jennifer L Perret, Melissa A Russell, Melissa C Southey, John L Hopper, Lyle C Gurrin, Christine J Axelrad, David J Hill, Shyamali C Dharmage

Journal article  |  2017  |  INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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DNA Methylation in Breast Tumor from High-risk Women in the Breast Cancer Family Registry

Hui-Chen Wu, Melissa C Southey, Hanina Hibshoosh, Regina M Santella, Mary Beth Terry

Journal article  |  2017  |  Anticancer Research

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Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts

Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Stine V Eriksen, Michael D Walsh, Rhiannon J Walters, Stephen N Thibodeau, Jenna Stewart, Susan Preston, Aung Ko Win, Louisa Flander, Driss Ait Ouakrim, Finlay A Macrae, Alex Boussioutas, Ingrid M Winship, Graham G Giles, John L Hopper, Melissa C Southey, Dallas English, Mark A Jenkins

Journal article  |  2017  |  JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY

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The Genomic Landscape of PALB2-Associated Breast Cancers

Anqi Li, Britta Weigelt, Kathleen A Burke, Pier Selenica, Hannah Y Wen, Salvatore Piscuoglio, Felipe Geyer, Fresia Pareja, Melissa Southey, Arto Mannermaa, Marketa Janatova, Soo-Twang Teo, Marc Tischkowitz, William Foulkes, Jorge Reis-Filho

Conference Proceedings  |  2017  |  LABORATORY INVESTIGATION

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Mutational landscape of breast cancers from PALB2 germline mutation carriers

KA Burke, S Berman, FC Geyer, S Piscuoglio, CK Ng, YH Wen, A Mannermaa, P Peterlongo, C Tondini, M Janatova, T Soo Hwang, P-S Ng, LM Looi, G Chenevix-Trench, MC Southey, B Weigelt, W Foulkes, M Tischkowitz, JS Reis-Filho

Conference Proceedings  |  2017  |  Poster Session Abstracts

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Characterisation of microbial communities within aggressive prostate cancer tissues

Melissa A Yow, Sepehr N Tabrizi, Gianluca Severi, Damien M Bolton, John Pedersen, Australian Prostate, Graham G Giles, Melissa C Southey

Journal article  |  2017  |  Infectious Agents and Cancer

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Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Yosr Hamdi, Penny Soucy, Karoline B Kuchenbaeker, Tomi Pastinen, Arnaud Droit, Audrey Lemacon, Julian Adlard, Kristiina Aittomaki, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Banu K Arun, Jacopo Azzollini, Anita Bane, Laure Barjhoux, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, Marinus J Blok, Kristie Bobolis, et al.

Journal article  |  2017  |  Breast Cancer Research and Treatment

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A prospective study of peripheral blood DNA methylation at RPTOR, MGRN1 and RAPSN and risk of breast cancer

Pierre-Antoine Dugue, Roger L Milne, Melissa C Southey

Journal article  |  2017  |  BREAST CANCER RESEARCH AND TREATMENT

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DNA methylation changes measured in pre-diagnostic peripheral blood samples are associated with smoking and lung cancer risk

Laura Baglietto, Erica Ponzi, Philip Haycock, Allison Hodge, Manuela Bianca Assumma, Chol-Hee Jung, Jessica Chung, Francesca Fasanelli, Florence Guida, Gianluca Campanella, Marc Chadeau-Hyam, Kjell Grankvist, Mikael Johansson, Ugo Ala, Paolo Provero, Ee Ming Wong, Jihoon Joo, Dallas R English, Nabila Kazmi, Eiliv Lund, et al.

Journal article  |  2017  |  INTERNATIONAL JOURNAL OF CANCER

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Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab

Hongyan Li, Bingjian Feng, Alexander Miron, Xiaoqing Chen, Jonathan Beesley, Emmanuella Bimeh, Daniel Barrowdale, Esther M John, Mary B Daly, Irene L Andrulis, Saundra S Buys, Peter Kraft, Heather Thorne, Georgia Chenevix-Trench, Melissa C Southey, Antonis C Antoniou, Paul A James, Mary Beth Terry, Kelly-Anne Phillips, John L Hopper, et al.

Journal article  |  2017  |  Genetics in Medicine

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Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma

Sasha Bernatsky, Hector A Velasquez Garcia, John J Spinelli, Patrick Gaffney, Karin E Smedby, Rosalind Ramsey-Goldman, Sophia S Wang, Hans-Olov Adami, Demetrius Albanes, Emanuele Angelucci, Stephen M Ansell, Yan W Asmann, Nikolaus Becker, Yolanda Benavente, Sonja I Berndt, Kimberly A Bertrand, Brenda M Birmann, Heiner Boeing, Paolo Boffetta, Paige M Bracci, et al.

Journal article  |  2017  |  Lupus Science & Medicine

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Causes of blood methylomic variation for middle-aged women measured by the HumanMethylation450 array

Shuai Li, Ee Ming Wong, Tuong L Nguyen, Ji-Hoon Eric Joo, Jennifer Stone, Gillian S Dite, Graham G Giles, Richard Saffery, Melissa C Southey, John L Hopper

Journal article  |  2017  |  Epigenetics

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SNP rs16906252C > T Is an Expression and Methylation Quantitative Trait Locus Associated with an Increased Risk of Developing MGMT-Methylated Colorectal Cancer

Joice Kuroiwa-Trzmielina, Fan Wang, Robert W Rapkins, Robyn L Ward, Daniel D Buchanan, Aung Ko Win, Mark Clendenning, Christophe Rosty, Melissa C Southey, Ingrid M Winship, John L Hopper, Mark A Jenkins, Jake Olivier, Nicholas J Hawkins, Megan P Hitchins

Journal article  |  2016  |  CLINICAL CANCER RESEARCH

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Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

Yosr Hamdi, Penny Soucy, Veronique Adoue, Kyriaki Michailidou, Sander Canisius, Audrey Lemacon, Arnaud Droit, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Caroline Baynes, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Borresen-Dale, Judith S Brand, Hiltrud Brauch, Hermann Brenner, et al.

Journal article  |  2016  |  ONCOTARGET

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkas, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Doerk, Kathleen BM Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo, et al.

Journal article  |  2016  |  Journal of Medical Genetics

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Mould-sensitized adults have lower Th2 cytokines and a higher prevalence of asthma than those sensitized to other aeroallergens

MC Matheson, JC Reece, RK Kandane-Rathnayake, MLK Tang, JA Simpson, IH Feather, MC Southey, H Tsimiklis, JL Hopper, SC Morrison, GG Giles, EH Walters, SC Dharmage

Journal article  |  2016  |  Allergy

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RE: BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers Response

Amanda B Spurdle, Susan Domchek, Mark Robson, Saundra Buys, Paolo Radice, Miguel de la Hoya, Peter Devilee, Alvaro NA Monteiro, Melissa Southey, Diana Eccles, Fergus J Couch, David E Goldgar

Journal article  |  2016  |  Journal of the National Cancer Institute

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Use of a Novel Nonparametric Version of DEPTH to Identify Genomic Regions Associated with Prostate Cancer Risk

Robert J MacInnis, Daniel F Schmidt, Enes Makalic, Gianluca Severi, Liesel M FitzGerald, Matthias Reumann, Miroslaw K Kapuscinski, Adam Kowalczyk, Zeyu Zhou, Benjamin Goudey, Guoqi Qian, Quang M Bui, Daniel J Park, Adam Freeman, Melissa C Southey, Ali Amin Al Olama, Zsofia Kote-Jarai, Rosalind A Eeles, John L Hopper, Graham G Giles

Journal article  |  2016  |  Cancer Epidemiology Biomarkers & Prevention

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Methylation of Breast Cancer Predisposition Genes in Early-Onset Breast Cancer: Australian Breast Cancer Family Registry

Cameron M Scott, JiHoon Eric Joo, Neil O'Callaghan, Daniel D Buchanan, Mark Clendenning, Graham G Giles, John L Hopper, Ee Ming Wong, Melissa C Southey

Journal article  |  2016  |  PLOS ONE

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rs2735383, located at a microRNA binding site in the 3 ' UTR of NBS1, is not associated with breast cancer risk

Jingjing Liu, Ivona Loncar, J Margriet Collee, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, Irene L Andrulis, Monica Barile, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Carl Blomqvist, Bram Boeckx, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Annegien Broeks, et al.

Journal article  |  2016  |  Scientific Reports

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Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Timothy R Rebbeck, Tara M Friebel, Nandita Mitra, Fei Wan, Stephanie Chen, Irene L Andrulis, Paraskevi Apostolou, Norbert Arnold, Banu K Arun, Daniel Barrowdale, Javier Benitez, Raanan Berger, Pascaline Berthet, Ake Borg, Saundra S Buys, Trinidad Caldes, Jonathan Carter, Jocelyne Chiquette, Kathleen BM Claes, Fergus J Couch, et al.

Journal article  |  2016  |  Breast Cancer Research

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The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk

Irene Catucci, Paolo Radice, Roger L Milne, Fergus J Couch, Melissa C Southey, Paolo Peterlongo

Journal article  |  2016  |  Breast Cancer Research

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Analysis of the breast cancer methylome using formalin-fixed paraffin-embedded tumour

Ee Ming Wong, JiHoon E Joo, Catriona A McLean, Laura Baglietto, Dallas R English, Gianluca Severi, Hui-Chen Wu, Mary Beth Terry, John L Hopper, Roger L Milne, Graham G Giles, Melissa C Southey

Journal article  |  2016  |  BREAST CANCER RESEARCH AND TREATMENT

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Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer

Shalaka S Hampras, Lara E Sucheston-Campbell, Rikki Cannioto, Jenny Chang-Claude, Francesmary Modugno, Thilo Doerk, Peter Hillemanns, Leah Preus, Keith L Knutson, Paul K Wallace, Chi-Chen Hong, Grace Friel, Warren Davis, Mary Nesline, Celeste L Pearce, Linda E Kelemen, Marc T Goodman, Elisa V Bandera, Kathryn L Terry, Nils Schoof, et al.

Journal article  |  2016  |  Oncotarget

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Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

Maya Ghoussaini, Juliet D French, Kyriaki Michailidou, Silje Nord, Jonathan Beesley, Sander Canisus, Kristine M Hillman, Susanne Kaufmann, Haran Sivakumaran, Mandi Moradi Marjaneh, Jason S Lee, Joe Dennis, Manjeet K Bolla, Qin Wang, Ed Dicks, Roger L Milne, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, et al.

Journal article  |  2016  |  The American Journal of Human Genetics

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Breast Cancer Risk From Modifiable and Nonmodifiable Risk Factors Among White Women in the United States

Paige Maas, Myrto Barrdahl, Amit D Joshi, Paul L Auer, Mia M Gaudet, Roger L Milne, Fredrick R Schumacher, William F Anderson, David Check, Subham Chattopadhyay, Laura Baglietto, Christine D Berg, Stephen J Chanock, David G Cox, Jonine D Figueroa, Mitchell H Gail, Barry I Graubard, Christopher A Haiman, Susan E Hankinson, Robert N Hoover, et al.

Journal article  |  2016  |  JAMA Oncology

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Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH

Aung Ko Win, Jeanette C Reece, James G Dowty, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Melissa C Southey, Joanne P Young, Sean P Cleary, Hyeja Kim, Michelle Cotterchio, Finlay A Macrae, Katherine M Tucker, John A Baron, Terrilea Burnett, Loic Le Marchand, Graham Casey, Robert W Haile, Polly A Newcomb, Stephen N Thibodeau, et al.

Journal article  |  2016  |  INTERNATIONAL JOURNAL OF CANCER

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Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

Jiajun Shi, Yanfeng Zhang, Wei Zheng, Kyriaki Michailidou, Maya Ghoussaini, Manjeet K Bolla, Qin Wang, Joe Dennis, Michael Lush, Roger L Milne, Xiao-Ou Shu, Jonathan Beesley, Siddhartha Kar, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Zhiguo Zhao, Xingyi Guo, Javier Benitez, et al.

Journal article  |  2016  |  International Journal of Cancer

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Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

Hatef Darabi, Jonathan Beesley, Arnaud Droit, Siddhartha Kar, Silje Nord, Mahdi Moradi Marjaneh, Penny Soucy, Kyriaki Michailidou, Maya Ghoussaini, Hanna Fues Wahl, Manjeet K Bolla, Qin Wang, Joe Dennis, M Rosario Alonso, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Javier Benitez, Natalia V Bogdanova, et al.

Journal article  |  2016  |  Scientific Reports

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An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

Asaf Wyszynski, Chi-Chen Hong, Kristin Lam, Kyriaki Michailidou, Christian Lytle, Song Yao, Yali Zhang, Manjeet K Bolla, Qin Wang, Joe Dennis, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Julian Peto, Isabel dos-Santos-Silva, et al.

Journal article  |  2016  |  Human Molecular Genetics

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Genome-wide measures of DNA methylation in peripheral blood and the risk of urothelial cell carcinoma: a prospective nested case-control study

Pierre-Antoine Dugue, Maree T Brinkman, Roger L Milne, Ee Ming Wong, Liesel M FitzGerald, Julie K Bassett, Jihoon E Joo, Chol-Hee Jung, Enes Makalic, Daniel F Schmidt, Daniel J Park, Jessica Chung, Anthony D Ta, Damien M Bolton, Andrew Lonie, Anthony Longano, John L Hopper, Gianluca Severi, Richard Saffery, Dallas R English, et al.

Journal article  |  2016  |  British Journal of Cancer

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Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

Gordon Fehringer, Peter Kraft, Paul D Pharoah, Rosalind A Eeles, Nilanjan Chatterjee, Fredrick R Schumacher, Joellen M Schildkraut, Sara Lindstrom, Paul Brennan, Heike Bickeboller, Richard S Houlston, Maria Teresa Landi, Neil Caporaso, Angela Risch, Ali Amin Al Olama, Sonja I Berndt, Edward L Giovannucci, Henrik Gronberg, Zsofia Kote-Jarai, Jing Ma, et al.

Journal article  |  2016  |  Cancer Research

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Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

Siddhartha P Kar, Jonathan Beesley, Ali Amin Al Olama, Kyriaki Michailidou, Jonathan Tyrer, Zsofi A Kote-Jarai, Kate Lawrenson, Sara Lindstrom, Susan J Ramus, Deborah J Thompson, Adam S Kibel, Agnieszka Dansonka-Mieszkowska, Agnieszka Michael, Aida K Dieffenbach, Aleksandra Gentry-Maharaj, Alice S Whittemore, Alicja Wolk, Alvaro Monteiro, Ana Peixoto, Andrzej Kierzek, et al.

Journal article  |  2016  |  Cancer Discovery

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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou, Jonathan Tyrer, Jonathan Beesley, Susan J Ramus, Qiyuan Li, Melissa K Delgado, Janet M Lee, Kristiina Aittomaki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K Arun, Brita Arver, Elisa V Bandera, Monica Barile, Rosa B Barkardottir, et al.

Journal article  |  2016  |  NATURE COMMUNICATIONS

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Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer: Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses

Nikhil K Khankari, Xiao-Ou Shu, Wanqing Wen, Peter Kraft, Sara Lindstrom, Ulrike Peters, Joellen Schildkraut, Fredrick Schumacher, Paolo Bofetta, Angela Risch, Heike Bickeboeller, Christopher I Amos, Douglas Easton, Rosalind A Eeles, Stephen B Gruber, Christopher A Haiman, David J Hunter, Stephen J Chanock, Brandon L Pierce, Wei Zheng

Journal article  |  2016  |  PLOS MEDICINE

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Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

Hisani N Horne, Charles C Chung, Han Zhang, Kai Yu, Ludmila Prokunina-Olsson, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Elinor J Sawyer, et al.

Journal article  |  2016  |  PLOS ONE

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Age- and Tumor Subtype Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

Marjanka K Schmidt, Frans Hogervorst, Richard van Hien, Sten Cornelissen, Annegien Broeks, Muriel A Adank, Hanne Meijers, Quinten Waisfisz, Antoinette Hollestelle, Mieke Schutte, Ans van den Ouweland, Maartje Hooning, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Antonis C Antoniou, Volker Arndt, Marina Bermisheva, Natalia V Bogdanova, Manjeet K Bolla, et al.

Journal article  |  2016  |  Journal of Clinical Oncology

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Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21

Craig C Teerlink, Daniel Leongamornlert, Tokhir Dadaev, Alun Thomas, James Farnham, Robert A Stephenson, Shaun Riska, Shannon K McDonnell, Daniel J Schaid, William J Catalona, S Lilly Zheng, Kathleen A Cooney, Anna M Ray, Kimberly A Zuhlke, Ethan M Lange, Graham G Giles, Melissa C Southey, Liesel M Fitzgerald, Antje Rinckleb, Manuel Luedeke, et al.

Journal article  |  2016  |  Human Genetics

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Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

Yan Guo, Shaneda Warren Andersen, Xiao-Ou Shu, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Montserrat Garcia-Closas, Roger L Milne, Marjanka K Schmidt, Jenny Chang-Claude, Allison Dunning, Stig E Bojesen, Habibul Ahsan, Kristiina Aittomaki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, et al.

Journal article  |  2016  |  PLOS MEDICINE

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Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Elena Vigorito, Karoline B Kuchenbaecker, Jonathan Beesley, Julian Adlard, Bjarni A Agnarsson, Irene L Andrulis, Banu K Arun, Laure Barjhoux, Muriel Belotti, Javier Benitez, Andreas Berger, Anders Bojesen, Bernardo Bonanni, Carole Brewer, Trinidad Caldes, Maria A Caligo, Ian Campbell, Salina B Chan, Kathleen BM Claes, David E Cohn, et al.

Journal article  |  2016  |  PLOS ONE

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Reliability of DNA methylation measures from dried blood spots and mononuclear cells using the HumanMethylation450k BeadArray

Pierre-Antoine Dugue, Dallas R English, Robert J MacInnis, Chol-Hee Jung, Julie K Bassett, Liesel M FitzGerald, Ee Ming Wong, Jihoon E Joo, John L Hopper, Melissa C Southey, Graham G Giles, Roger L Milne

Journal article  |  2016  |  SCIENTIFIC REPORTS

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Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Chenjie Zeng, Xingyi Guo, Jirong Long, Karoline B Kuchenbaecker, Arnaud Droit, Kyriaki Michailidou, Maya Ghoussaini, Siddhartha Kar, Adam Freeman, John L Hopper, Roger L Milne, Manjeet K Bolla, Qin Wang, Joe Dennis, Simona Agata, Shahana Ahmed, Kristiina Aittomaki, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, et al.

Journal article  |  2016  |  BREAST CANCER RESEARCH

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Mammographic density and risk of breast cancer by mode of detection and tumor size: a case-control study

Kavitha Krishnan, Laura Baglietto, Carmel Apicella, Jennifer Stone, Melissa C Southey, Dallas R English, Graham G Giles, John L Hopper

Journal article  |  2016  |  BREAST CANCER RESEARCH

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ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry

Anne-Laure Renault, Fabienne Lesueur, Yan Coulombe, Stephane Gobeil, Penny Soucy, Yosr Hamdi, Sylvie Desjardins, Florence Le Calvez-Kelm, Maxime Vallee, Catherine Voegele, John L Hopper, Irene L Andrulis, Melissa C Southey, Esther M John, Jean-Yves Masson, Sean V Tavtigian, Jacques Simard

Journal article  |  2016  |  PLOS ONE

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Combined genetic and splicing analysis of BRCA1 c.[594-2A > C; 641A > G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Miguel de la Hoya, Omar Soukarieh, Irene Lopez-Perolio, Ana Vega, Logan C Walker, Yvette van Ierland, Diana Baralle, Marta Santamarina, Vanessa Lattimore, Juul Wijnen, Philip Whiley, Ana Blanco, Michela Raponi, Jan Hauke, Barbara Wappenschmidt, Alexandra Becker, Thomas VO Hansen, Raquel Behar, Diether Niederacher, Norbert Arnold, et al.

Journal article  |  2016  |  Human Molecular Genetics

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Multigene testing of moderate-risk genes: be mindful of the missense

EL Young, BJ Feng, AW Stark, F Damiola, G Durand, N Forey, TC Francy, A Gammon, WK Kohlmann, KA Kaphingst, S McKay-Chopin, T Nguyen-Dumont, J Oliver, AM Paquette, M Pertesi, N Robinot, JS Rosenthal, M Vallee, C Voegele, JL Hopper, et al.

Journal article  |  2016  |  Journal of Medical Genetics

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Mendelian randomization study of adiposity-related traits and risk of breast, ovarian, prostate, lung and colorectal cancer

Chi Gao, Chirag J Patel, Kyriaki Michailidou, Ulrike Peters, Jian Gong, Joellen Schildkraut, Fredrick R Schumacher, Wei Zheng, Paolo Boffetta, Isabelle Stucker, Walter Willett, Stephen Gruber, Douglas F Easton, David J Hunter, Thomas A Sellers, Christopher Haiman, Brian E Henderson, Rayjean J Hung, Christopher Amos, Brandon L Pierce, et al.

Journal article  |  2016  |  International Journal of Epidemiology

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Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study

Suzanne C Dixon, Christina M Nagle, Aaron P Thrift, Paul DP Pharoah, Celeste Leigh Pearce, Wei Zheng, Jodie N Painter, Georgia Chenevix-Trench, Peter A Fasching, Matthias W Beckmann, Diether Lambrechts, Ignace Vergote, Sandrina Lambrechts, Els Van Nieuwenhuysen, Mary Anne Rossing, Jennifer A Doherty, Kristine G Wicklund, Jenny Chang-Claude, Anja Rudolph, Kirsten B Moysich, et al.

Journal article  |  2016  |  International Journal of Epidemiology

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RAD51B in Familial Breast Cancer

Liisa M Pelttari, Sofia Khan, Mikko Vuorela, Johanna I Kiiski, Sara Vilske, Viivi Nevanlinna, Salla Ranta, Johanna Schleutker, Robert Winqvist, Anne Kallioniemi, Thilo Doerk, Natalia V Bogdanova, Jonine Figueroa, Paul DP Pharoah, Marjanka K Schmidt, Alison M Dunning, Montserrat Garcia-Closas, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, et al.

Journal article  |  2016  |  PLOS ONE

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Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

Zhiguo Zhao, Wanqing Wen, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Ben Zhang, Jirong Long, Xiao-Ou Shu, Marjanka K Schmidt, Roger L Milne, Montserrat Garcia-Closas, Jenny Chang-Claude, Sara Lindstrom, Stig E Bojesen, Habibul Ahsan, Kristiina Aittomaki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, et al.

Journal article  |  2016  |  Cancer Causes & Control

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Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes

Kristen S Purrington, Daniel W Visscher, Chen Wang, Drakoulis Yannoukakos, Ute Hamann, Heli Nevanlinna, Angela Cox, Graham G Giles, Jeanette E Eckel-Passow, Sotiris Lakis, Vassiliki Kotoula, George Fountzilas, Maria Kabisch, Thomas Ruediger, Paivi Heikkila, Carl Blomqvist, Simon S Cross, Melissa C Southey, Janet E Olson, Judy Gilbert, et al.

Journal article  |  2016  |  Breast Cancer Research and Treatment

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No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

Douglas F Easton, Fabienne Lesueur, Brennan Decker, Kyriaki Michailidou, Jun Li, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Joe Dennis, Jamil Ahmad, Ella R Thompson, Francesca Damiola, Maroulio Pertesi, Catherine Voegele, Noura Mebirouk, Nivonirina Robinot, Geoffroy Durand, et al.

Journal article  |  2016  |  JOURNAL OF MEDICAL GENETICS

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Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients

Hanis Nazihah Hasmad, Kah Nyin Lai, Wei Xiong Wen, Daniel Jonathan Park, Tu Nguyen-Dumont, Peter Choon Eng Kang, Eswary Thirthagiri, Mahirah Ma'som, Boon Kiong Lim, Melissa Southey, Yin Ling Woo, Soo-Hwang Teo

Journal article  |  2016  |  Gynecologic Oncology

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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Antoinette Hollestelle, Frederieke H van der Baan, Andrew Berchuck, Sharon E Johnatty, Katja K Aben, Bjarni A Agnarsson, Kristiina Aittomaki, Elisa Alducci, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Antonis C Antoniou, Carmel Apicella, Volker Arndt, Norbert Arnold, Banu K Arun, Brita Arver, Alan Ashworth, Laura Baglietto, Rosemary Balleine, et al.

Journal article  |  2016  |  Gynecologic Oncology

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PALB2: research reaching to clinical outcomes for women with breast cancer

Melissa C Southey, Ingrid Winship, Nguyen-Dumont Tu

Journal article  |  2016  |  HEREDITARY CANCER IN CLINICAL PRACTICE

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Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

Mitchell J Machiela, Qing Lan, Susan L Slager, Roel CH Vermeulen, Lauren R Teras, Nicola J Camp, James R Cerhan, John J Spinelli, Sophia S Wang, Alexandra Nieters, Joseph Vijai, Meredith Yeager, Zhaoming Wang, Herve Ghesquieres, James Mckay, Lucia Conde, Paul IW de Bakker, David G Cox, Laurie Burdett, Alain Monnereau, et al.

Journal article  |  2016  |  Human Molecular Genetics

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Pubertal development and prostate cancer risk: Mendelian randomization study in a population-based cohort

Carolina Bonilla, Sarah J Lewis, Richard M Martin, Jenny L Donovan, Freddie C Hamdy, David E Neal, Rosalind Eeles, Doug Easton, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Kenneth Muir, Graham G Giles, Fredrik Wiklund, Henrik Gronberg, Christopher A Haiman, Johanna Schleutker, Borge G Nordestgaard, Ruth C Travis, Nora Pashayan, et al.

Journal article  |  2016  |  BMC Medicine

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Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation

Alexander Gusev, Huwenbo Shi, Gleb Kichaev, Mark Pomerantz, Fugen Li, Henry W Long, Sue A Ingles, Rick A Kittles, Sara S Strom, Benjamin A Rybicki, Barbara Nemesure, William B Isaacs, Wei Zheng, Curtis A Pettaway, Edward D Yeboah, Yao Tettey, Richard B Biritwum, Andrew A Adjei, Evelyn Tay, Ann Truelove, et al.

Journal article  |  2016  |  Nature Communications

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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Fergus J Couch, Karoline B Kuchenbaecker, Kyriaki Michailidou, Gustavo A Mendoza-Fandino, Silje Nord, Janna Lilyquist, Curtis Olswold, Emily Hallberg, Simona Agata, Habibul Ahsan, Kristiina Aittomaeki, Christine Ambrosone, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K Arun, Brita Arver, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, et al.

Journal article  |  2016  |  NATURE COMMUNICATIONS

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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Alison M Dunning, Kyriaki Michailidou, Karoline B Kuchenbaecker, Deborah Thompson, Juliet D French, Jonathan Beesley, Catherine S Healey, Siddhartha Kar, Karen A Pooley, Elena Lopez-Knowles, Ed Dicks, Daniel Barrowdale, Nicholas A Sinnott-Armstrong, Richard C Sallari, Kristine M Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S Lee, Margaret Hills, et al.

Journal article  |  2016  |  Nature Genetics

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Gene panel testing for hereditary breast cancer

Ingrid Winship, Melissa C Southey

Journal article  |  2016  |  Medical Journal of Australia

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Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

Sonja I Berndt, Nicola J Camp, Christine F Skibola, Joseph Vijai, Zhaoming Wang, Jian Gu, Alexandra Nieters, Rachel S Kelly, Karin E Smedby, Alain Monnereau, Wendy Cozen, Angela Cox, Sophia S Wang, Qing Lan, Lauren R Teras, Moara Machado, Meredith Yeager, Angela R Brooks-Wilson, Patricia Hartge, Mark P Purdue, et al.

Journal article  |  2016  |  Nature Communications

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Genetic predisposition to ductal carcinoma in situ of the breast

Christos Petridis, Mark N Brook, Vandna Shah, Kelly Kohut, Patricia Gorman, Michele Caneppele, Dina Levi, Efterpi Papouli, Nick Orr, Angela Cox, Simon S Cross, Isabel dos-Santos-Silva, Julian Peto, Anthony Swerdlow, Minouk J Schoemaker, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Javier Benitez, et al.

Journal article  |  2016  |  Breast Cancer Research

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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Valentina Silvestri, Daniel Barrowdale, Anna Marie Mulligan, Susan L Neuhausen, Stephen Fox, Beth Y Karlan, Gillian Mitchell, Paul James, Darcy L Thull, Kristin K Zorn, Natalie J Carter, Katherine L Nathanson, Susan M Dornchek, Timothy R Rebbeck, Susan J Ramus, Robert L Nussbaum, Olufunrnilayo I Olopade, Johanna Rantala, Sook-Yee Yoon, Maria A Caligo, et al.

Journal article  |  2016  |  BREAST CANCER RESEARCH

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Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers

Hyuna Sung, Montserrat Garcia-Closas, Jenny Chang-Claude, Fiona M Blows, H Raza Ali, Jonine Figueroa, Heli Nevanlinna, Rainer Fagerholm, Paivi Heikkila, Carl Blomqvist, Graham G Giles, Roger L Milne, Melissa C Southey, Catriona McLean, Arto Mannermaa, Veli-Matti Kosma, Vesa Kataja, Reijo Sironen, Fergus J Couch, Janet E Olson, et al.

Journal article  |  2016  |  British Journal of Cancer

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Strategies for Integrated Analysis of Genetic, Epigenetic, and Gene Expression Variation in Cancer: Addressing the Challenges

Louise B Thingholm, Lars Andersen, Enes Makalic, Melissa C Southey, Mads Thomassen, Lise Lotte Hansen

Journal article  |  2016  |  Frontiers in Genetics

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Breast Cancer Risk Prediction Using Clinical Models and 77 Independent Risk-Associated SNPs for Women Aged Under 50 Years: Australian Breast Cancer Family Registry

Gillian S Dite, Robert J MacInnis, Adrian Bickerstaffe, James G Dowty, Richard Allman, Carmel Apicella, Roger L Milne, Helen Tsimiklis, Kelly-Anne Phillips, Graham G Giles, Mary Beth Terry, Melissa C Southey, John L Hopper

Journal article  |  2016  |  Cancer Epidemiology Biomarkers & Prevention

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Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort

Christophe Rosty, Mark Clendenning, Michael D Walsh, Stine V Eriksen, Melissa C Southey, Ingrid M Winship, Finlay A Macrae, Alex Boussioutas, Nicola K Poplawski, Susan Parry, Julie Arnold, Joanne P Young, Graham Casey, Robert W Haile, Steven Gallinger, Loic Le Marchand, Polly A Newcomb, John D Potter, Melissa DeRycke, Noralane M Lindor, et al.

Journal article  |  2016  |  BMJ OPEN

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BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Huong D Meeks, Honglin Song, Kyriaki Michailidou, Manjeet K Bolla, Joe Dennis, Qin Wang, Daniel Barrowdale, Debra Frost, Lesley McGuffog, Steve Ellis, Bingjian Feng, Saundra S Buys, John L Hopper, Melissa C Southey, Andrea Tesoriero, Paul A James, Fiona Bruinsma, Ian G Campbell, Annegien Broeks, Marjanka K Schmidt, et al.

Journal article  |  2016  |  Journal of the National Cancer Institute

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Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

Jieping Lei, Anja Rudolph, Kirsten B Moysich, Sabine Behrens, Ellen L Goode, Manjeet K Bolla, Joe Dennis, Alison M Dunning, Douglas F Easton, Qin Wang, Javier Benitez, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Peter A Fasching, Lothar Haeberle, Julian Peto, Isabel dos-Santos-Silva, Elinor J Sawyer, et al.

Journal article  |  2016  |  Human Genetics

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Evidence of a genetic link between endometriosis and ovarian cancer

Alice W Lee, Claire Templeman, Douglas A Stram, Jonathan Beesley, Jonathan Tyrer, Andrew Berchuck, Paul P Pharoah, Georgia Chenevix-Trench, Celeste Leigh Pearce

Journal article  |  2016  |  Fertility and Sterility

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Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families

Jun Li, Huong Meeks, Bing-Jian Feng, Sue Healey, Heather Thorne, Igor Makunin, Jonathan Ellis, Ian Campbell, Melissa Southey, Gillian Mitchell, David Clouston, Judy Kirk, David Goldgar, Georgia Chenevix-Trench

Journal article  |  2016  |  Journal of Medical Genetics

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Global measures of peripheral blood-derived DNA methylation as a risk factor in the development of mature B-cell neoplasms

Nicole Wong Doo, Enes Makalic, JiHoon E Joo, Claire M Vajdic, Daniel F Schmidt, Ee Ming Wong, Chol-Hee Jung, Gianluca Severi, Daniel J Park, Jessica Chung, Laura Baglietto, Henry Miles Prince, John F Seymour, Constantine Tam, John L Hopper, Dallas R English, Roger L Milne, Simon J Harrison, Melissa C Southey, Graham G Giles

Journal article  |  2016  |  Epigenomics

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Association of breast cancer risk loci with breast cancer survival

Myrto Barrdahl, Federico Canzian, Sara Lindstroem, Irene Shui, Amanda Black, Robert N Hoover, Regina G Ziegler, Julie E Buring, Stephen J Chanock, W Ryan Diver, Susan M Gapstur, Mia M Gaudet, Graham G Giles, Christopher Haiman, Brian E Henderson, Susan Hankinson, David J Hunter, Amit D Joshi, Peter Kraft, I-Min Lee, et al.

Journal article  |  2015  |  International Journal of Cancer

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Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types

Joshua N Sampson, William A Wheeler, Meredith Yeager, Orestis Panagiotou, Zhaoming Wang, Sonja I Berndt, Qing Lan, Christian C Abnet, Laufey T Amundadottir, Jonine D Figueroa, Maria Teresa Landi, Lisa Mirabello, Sharon A Savage, Philip R Taylor, Immaculata De Vivo, Katherine A McGlynn, Mark P Purdue, Preetha Rajaraman, Hans-Olov Adami, Anders Ahlbom, et al.

Journal article  |  2015  |  Journal of the National Cancer Institute

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Hypomethylation of smoking-related genes is associated with future lung cancer in four prospective cohorts

Francesca Fasanelli, Laura Baglietto, Erica Ponzi, Florence Guida, Gianluca Campanella, Mattias Johansson, Kjell Grankvist, Mikael Johansson, Manuela Bianca Assumma, Alessio Naccarati, Marc Chadeau-Hyam, Ugo Ala, Christian Faltus, Rudolf Kaaks, Angela Risch, Bianca De Stavola, Allison Hodge, Graham G Giles, Melissa C Southey, Caroline L Relton, et al.

Journal article  |  2015  |  Nature Communications

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Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk

Ernest K Amankwah, Hui-Yi Lin, Jonathan P Tyrer, Kate Lawrenson, Joe Dennis, Ganna Chornokur, Katja KH Aben, Hoda Anton-Culver, Natalia Antonenkova, Fiona Bruinsma, Elisa V Bandera, Yukie T Bean, Matthias W Beckmann, Maria Bisogna, Line Bjorge, Natalia Bogdanova, Louise A Brinton, Angela Brooks-Wilson, Clareann H Bunker, Ralf Butzow, et al.

Journal article  |  2015  |  Genetic Epidemiology

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Genetic and Environmental Causes of Variation in the Difference Between Biological Age Based on DNA Methylation and Chronological Age for Middle-Aged Women

Shuai Li, Ee Ming Wong, JiHoon E Joo, Chol-Hee Jung, Jessica Chung, Carmel Apicella, Jennifer Stone, Gillian S Dite, Graham G Giles, Melissa C Southey, John L Hopper

Journal article  |  2015  |  Twin Research and Human Genetics

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Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair EDITORIAL COMMENT

Felix R Day, Katherine S Ruth, Deborah J Thompson, Kathryn L Lunetta, Natalia Pervjakova, Daniel I Chasman, Lisette Stolk, Hilary K Finucane, Patrick Sulem, Brendan Bulik-Sullivan, Tonu Esko, Andrew D Johnson, Cathy E Elks, Nora Franceschini, Chunyan He, Elisabeth Altmaier, Jennifer A Brody, Lude L Franke, Jennifer E Huffman, Margaux F Keller, et al.

Journal article  |  2015  |  Obstetrical & Gynecological Survey

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SNP-SNP interaction analysis of NF-kappa B signaling pathway on breast cancer survival

Maral Jamshidi, Rainer Fagerholm, Sofia Khan, Kristiina Aittomaki, Kamila Czene, Hatef Darabi, Jingmei Li, Irene L Andrulis, Jenny Chang-Claude, Peter Devilee, Peter A Fasching, Kyriaki Michailidou, Manjeet K Bolla, Joe Dennis, Qin Wang, Qi Guo, Valerie Rhenius, Sten Cornelissen, Anja Rudolph, Julia A Knight, et al.

Journal article  |  2015  |  Oncotarget

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Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk

Xingyi Guo, Jirong Long, Chenjie Zeng, Kyriaki Michailidou, Maya Ghoussaini, Manjeet K Bolla, Qin Wang, Roger L Milne, Xiao-Ou Shu, Qiuyin Cai, Jonathan Beesley, Siddhartha P Kar, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, William Blot, Natalia Bogdanova, et al.

Journal article  |  2015  |  CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

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Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer

Kate Lawrenson, Edwin S Iversen, Jonathan Tyrer, Rachel Palmieri Weber, Patrick Concannon, Dennis J Hazelett, Qiyuan Li, Jeffrey R Marks, Andrew Berchuck, Janet M Lee, Katja KH Aben, Hoda Anton-Culver, Natalia Antonenkova, Elisa V Bandera, Yukie Bean, Matthias W Beckmann, Maria Bisogna, Line Bjorge, Natalia Bogdanova, Louise A Brinton, et al.

Journal article  |  2015  |  Carcinogenesis

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Genome-Wide Association Study of Prostate Cancer-Specific Survival

Robert Szulkin, Robert Karlsson, Thomas Whitington, Markus Aly, Henrik Gronberg, Rosalind A Eeles, Douglas F Easton, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Kenneth Muir, Graham G Giles, Melissa C Southey, Liesel M FitzGerald, Brian E Henderson, Fredrick R Schumacher, Christopher A Haiman, Csilla Sipeky, Teuvo LJ Tammela, Borge G Nordestgaard, et al.

Journal article  |  2015  |  Cancer Epidemiology Biomarkers & Prevention

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Genetic variants within the hTERT gene and the risk of colorectal cancer in Lynch syndrome.

Aung Ko Win, Mark Clendenning, William Crawford, Christophe Rosty, Susan G Preston, Melissa C Southey, Susan Parry, Graham G Giles, Finlay A Macrae, Ingrid M Winship, John A Baron, John L Hopper, Mark A Jenkins, Daniel D Buchanan

Journal article  |  2015  |  Genes Cancer

Lynch syndrome is an inherited cancer-predisposing disorder caused by germline mutations in the DNA mismatch repair (MMR) genes bu..

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Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Felix R Day, Katherine S Ruth, Deborah J Thompson, Kathryn L Lunetta, Natalia Pervjakova, Daniel I Chasman, Lisette Stolk, Hilary K Finucane, Patrick Sulem, Brendan Bulik-Sullivan, Tonu Esko, Andrew D Johnson, Cathy E Elks, Nora Franceschini, Chunyan He, Elisabeth Altmaier, Jennifer A Brody, Lude L Franke, Jennifer E Huffman, Margaux F Keller, et al.

Journal article  |  2015  |  Nature Genetics

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The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium

Neil M Davies, Tom R Gaunt, Sarah J Lewis, Jeff Holly, Jenny L Donovan, Freddie C Hamdy, John P Kemp, Rosalind Eeles, Doug Easton, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Kenneth Muir, Graham G Giles, Fredrik Wiklund, Henrik Gronberg, Christopher A Haiman, Johanna Schleutker, Borge G Nordestgaard, Ruth C Travis, et al.

Journal article  |  2015  |  Cancer Causes & Control

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Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

Ben Zhang, Xiao-Ou Shu, Ryan J Delahanty, Chenjie Zeng, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Wanqing Wen, Jirong Long, Chun Li, Alison M Dunning, Jenny Chang-Claude, Mitul Shah, Barbara J Perkins, Kamila Czene, Hatef Darabi, Mikael Eriksson, Stig E Bojesen, Borge G Nordestgaard, et al.

Journal article  |  2015  |  Journal of the National Cancer Institute

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Tools for translational epigenetic studies involving formalin-fixed paraffin-embedded human tissue: applying the Infinium HumanMethyation450 Beadchip assay to large population-based studies.

Ee Ming Wong, JiHoon E Joo, Catriona A McLean, Laura Baglietto, Dallas R English, Gianluca Severi, John L Hopper, Roger L Milne, Liesel M FitzGerald, Graham G Giles, Melissa C Southey

Journal article  |  2015  |  BMC Res Notes

BACKGROUND: Large population-based translational epigenetic studies are emerging due to recent technological advances that have ma..

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Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk

Siddhartha P Kar, Jonathan P Tyrer, Qiyuan Li, Kate Lawrenson, Katja KH Aben, Hoda Anton-Culver, Natalia Antonenkova, Georgia Chenevix-Trench, Helen Baker, Elisa V Bandera, Yukie T Bean, Matthias W Beckmann, Andrew Berchuck, Maria Bisogna, Line Bjorge, Natalia Bogdanova, Louise Brinton, Angela Brooks-Wilson, Ralf Butzow, Ian Campbell, et al.

Journal article  |  2015  |  Cancer Epidemiology Biomarkers & Prevention

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Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

Ali Amin Al Olama, Tokhir Dadaev, Dennis J Hazelett, Qiuyan Li, Daniel Leongamornlert, Edward J Saunders, Sarah Stephens, Clara Cieza-Borrella, Ian Whitmore, Sara Benlloch Garcia, Graham G Giles, Melissa C Southey, Liesel Fitzgerald, Henrik Gronberg, Fredrik Wiklund, Markus Aly, Brian E Henderson, Fredrick Schumacher, Christopher A Haiman, Johanna Schleutker, et al.

Journal article  |  2015  |  Human Molecular Genetics

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Prediction of Individual Genetic Risk to Prostate Cancer Using a Polygenic Score

Robert Szulkin, Thomas Whitington, Martin Eklund, Markus Aly, Rosalind A Eeles, Douglas Easton, ZSofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Kenneth Muir, Graham G Giles, Melissa C Southey, Liesel M Fitzgerald, Brian E Henderson, Fredrick Schumacher, Christopher A Haiman, Johanna Schleutker, Tiina Wahlfors, Teuvo LJ Tammela, Borge G Nordestgaard, et al.

Journal article  |  2015  |  The Prostate

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Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer

Kate Lawrenson, Qiyan Li, Siddhartha Kar, Ji-Heui Seo, Jonathan Tyrer, Tassja J Spindler, Janet Lee, Yibu Chen, Alison Karst, Ronny Drapkin, Katja KH Aben, Hoda Anton-Culver, Natalia Antonenkova, Helen Baker, Elisa V Bandera, Yukie Bean, Matthias W Beckmann, Andrew Berchuck, Maria Bisogna, Line Bjorge, et al.

Journal article  |  2015  |  Nature Communications

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A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density

Anja Rudolph, Peter A Fasching, Sabine Behrens, Ursula Eilber, Manjeet K Bolla, Qin Wang, Deborah Thompson, Kamila Czene, Judith S Brand, Jingmei Li, Christopher Scott, V Shane Pankratz, Kathleen Brandt, Emily Hallberg, Janet E Olson, Adam Lee, Matthias W Beckmann, Arif B Ekici, Lothar Haeberle, Gertraud Maskarinec, et al.

Journal article  |  2015  |  BREAST CANCER RESEARCH

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Genome-wide significant risk associations for mucinous ovarian carcinoma

Linda E Kelemen, Kate Lawrenson, Jonathan Tyrer, Qiyuan Li, Janet M Lee, Ji-Heui Seo, Catherine M Phelan, Jonathan Beesley, Xiaoqing Chen, Tassja J Spindler, Katja KH Aben, Hoda Anton-Culver, Natalia Antonenkova, Helen Baker, Elisa V Bandera, Yukie Bean, Matthias W Beckmann, Maria Bisogna, Line Bjorge, Natalia Bogdanova, et al.

Journal article  |  2015  |  Nature Genetics

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Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

Hatef Darabi, Karen Mccue, Jonathan Beesley, Kyriaki Michailidou, Silje Nord, Siddhartha Kar, Keith Humphreys, Deborah Thompson, Maya Ghoussaini, Manjeet K Bolla, Joe Dennis, Qin Wang, Sander Canisius, Christopher G Scott, Carmel Apicella, John L Hopper, Melissa C Southey, Jennifer Stone, Annegien Broeks, Marjanka K Schmidt, et al.

Journal article  |  2015  |  The American Journal of Human Genetics

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Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci

Simon G Coetzee, Howard C Shen, Dennis J Hazelett, Kate Lawrenson, Karoline Kuchenbaecker, Jonathan Tyrer, Suhn K Rhie, Keren Levanon, Alison Karst, Ronny Drapkin, Susan J Ramus, Fergus J Couch, Kenneth Offit, Georgia Chenevix-Trench, Alvaro NA Monteiro, Antonis Antoniou, Matthew Freedman, Gerhard A Coetzee, Paul DP Pharoah, Houtan Noushmehr, et al.

Journal article  |  2015  |  Human Molecular Genetics

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Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

Ali Amin Al Olama, Sara Benlloch, Antonis C Antoniou, Graham G Giles, Gianluca Severi, David E Neal, Freddie C Hamdy, Jenny L Donovan, Kenneth Muir, Johanna Schleutker, Brian E Henderson, Christopher A Haiman, Fredrick R Schumacher, Nora Pashayan, Paul DP Pharoah, Elaine A Ostrander, Janet L Stanford, Jyotsna Batra, Judith A Clements, Suzanne K Chambers, et al.

Journal article  |  2015  |  Cancer Epidemiology Biomarkers & Prevention

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Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk

Ganna Chornokur, Hui-Yi Lin, Jonathan P Tyrer, Kate Lawrenson, Joe Dennis, Ernest K Amankwah, Xiaotao Qu, Ya-Yu Tsai, Heather SL Jim, Zhihua Chen, Ann Y Chen, Jennifer Permuth-Wey, Katja KH Aben, Hoda Anton-Culver, Natalia Antonenkova, Fiona Bruinsma, Elisa V Bandera, Yukie T Bean, Matthias W Beckmann, Maria Bisogna, et al.

Journal article  |  2015  |  PLOS ONE

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Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures

Jennifer Stone, Deborah J Thompson, Isabel dos Santos Silva, Christopher Scott, Rulla M Tamimi, Sara Lindstrom, Peter Kraft, Aditi Hazra, Jingmei Li, Louise Eriksson, Kamila Czene, Per Hall, Matt Jensen, Julie Cunningham, Janet E Olson, Kristen Purrington, Fergus J Couch, Judith Brown, Jean Leyland, Ruth ML Warren, et al.

Journal article  |  2015  |  Cancer Research

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Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

Douglas F Easton, Paul DP Pharoah, Antonis C Antoniou, Marc Tischkowitz, Sean V Tavtigian, Katherine L Nathanson, Peter Devilee, Alfons Meindl, Fergus J Couch, Melissa Southey, David E Goldgar, Gareth R Evans, Georgia Chenevix-Trench, Nazneen Rahman, Mark Robson, Susan M Domchek, William D Foulkes

Journal article  |  2015  |  New England Journal of Medicine

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Interpretation of genomic variation and disease association: the great missense mutation challenge!

Nguyen-Dumont Tu, Ingrid Winship, Melissa C Southey

Journal article  |  2015  |  Breast Cancer Research and Treatment

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Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry

Tehillah S Menes, Mary Beth Terry, David Goldgar, Irene L Andrulis, Julia A Knight, Esther M John, Yuyan Liao, Melissa Southey, Alexander Miron, Wendy Chung, Saundra S Buys

Journal article  |  2015  |  Breast Cancer Research and Treatment

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Genome wide association study identifies a novel putative mammographic density locus at 1q12-q21

Pablo Fernandez-Navarro, Anna Gonzalez-Neira, Guillermo Pita, Ramon Diaz-Uriarte, Leticia Tais Moreno, Maria Ederra, Carmen Pedraz-Pingarron, Carmen Sanchez-Contador, Jose Antonio Vazquez-Carrete, Pilar Moreo, Carmen Vidal, Dolores Salas-Trejo, Jennifer Stone, Melissa C Southey, John L Hopper, Beatriz Perez-Gomez, Javier Benitez, Marina Pollan

Journal article  |  2015  |  International Journal of Cancer

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Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2

Nick Orr, Frank Dudbridge, Nicola Dryden, Sarah Maguire, Daniela Novo, Eleni Perrakis, Nichola Johnson, Maya Ghoussaini, John L Hopper, Melissa C Southey, Carmel Apicella, Jennifer Stone, Marjanka K Schmidt, Annegien Broeks, Laura J Van't Veer, Frans B Hogervorst, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, et al.

Journal article  |  2015  |  HUMAN MOLECULAR GENETICS

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Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Nasim Mavaddat, Paul DP Pharoah, Kyriaki Michailidou, Jonathan Tyrer, Mark N Brook, Manjeet K Bolla, Qin Wang, Joe Dennis, Alison M Dunning, Mitul Shah, Robert Luben, Judith Brown, Stig E Bojesen, Borge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Kamila Czene, Hatef Darabi, Mikael Eriksson, Julian Peto, et al.

Journal article  |  2015  |  JNCI: Journal of the National Cancer Institute

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Identification of Novel Genetic Markers of Breast Cancer Survival

Qi Guo, Marjanka K Schmidt, Peter Kraft, Sander Canisius, Constance Chen, Sofia Khan, Jonathan Tyrer, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Michael Lush, Siddhartha Kar, Jonathan Beesley, Alison M Dunning, Mitul Shah, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diether Lambrechts, et al.

Journal article  |  2015  |  JNCI: Journal of the National Cancer Institute

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Common germline polymorphisms associated with breast cancer-specific survival

Ailith Pirie, Qi Guo, Peter Kraft, Sander Canisius, Diana M Eccles, Nazneen Rahman, Heli Nevanlinna, Constance Chen, Sofia Khan, Jonathan Tyrer, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Michael Lush, Alison M Dunning, Mitul Shah, Kamila Czene, Hatef Darabi, Mikael Eriksson, et al.

Journal article  |  2015  |  Breast Cancer Research

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The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients

Rainer Fagerholm, Marjanka K Schmidt, Sofia Khan, Sajjad Rafiq, William Tapper, Kristiina Aittomaki, Dario Greco, Tuomas Heikkinen, Taru A Muranen, Peter A Fasching, Wolfgang Janni, Richard Weinshilboum, Christian R Loehberg, John L Hopper, Melissa C Southey, Renske Keeman, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, et al.

Journal article  |  2015  |  Oncotarget

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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Kyriaki Michailidou, Jonathan Beesley, Sara Lindstrom, Sander Canisius, Joe Dennis, Michael J Lush, Mel J Maranian, Manjeet K Bolla, Qin Wang, Mitul Shah, Barbara J Perkins, Kamila Czene, Mikael Eriksson, Hatef Darabi, Judith S Brand, Stig E Bojesen, Borge G Nordestgaard, Henrik Flyger, Sune F Nielsen, Nazneen Rahman, et al.

Journal article  |  2015  |  NATURE GENETICS

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A Large-Scale Analysis of Genetic Variants within Putative miRNA Binding Sites in Prostate Cancer

Shane Stegeman, Ernest Amankwah, Kerenaftali Klein, Tracy A O'Mara, Donghwa Kim, Hui-Yi Lin, Jennifer Permuth-Wey, Thomas A Sellers, Srilakshmi Srinivasan, Rosalind Eeles, Doug Easton, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Kenneth Muir, Graham G Giles, Fredrik Wiklund, Henrik Gronberg, Christopher A Haiman, Johanna Schleutker, et al.

Journal article  |  2015  |  Cancer Discovery

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Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

Anja Rudolph, Roger L Milne, Therese Truong, Julia A Knight, Petra Seibold, Dieter Flesch-Janys, Sabine Behrens, Ursula Eilber, Manjeet K Bolla, Qin Wang, Joe Dennis, Alison M Dunning, Mitul Shah, Hannah R Munday, Hatef Darabi, Mikael Eriksson, Judith S Brand, Janet Olson, Celine M Vachon, Emily Hallberg, et al.

Journal article  |  2015  |  International Journal of Cancer

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Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

Jodie N Painter, Tracy A O'Mara, Jyotsna Batra, Timothy Cheng, Felicity A Lose, Joe Dennis, Kyriaki Michailidou, Jonathan P Tyrer, Shahana Ahmed, Kaltin Ferguson, Catherine S Healey, Susanne Kaufmann, Kristine M Hillman, Carina Walpole, Leire Moya, Pamela Pollock, Angela Jones, Kimberley Howarth, Lynn Martin, Maggie Gorman, et al.

Journal article  |  2015  |  Human Molecular Genetics

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Evaluating the ovarian cancer gonadotropin hypothesis: A candidate gene study

Alice W Lee, Jonathan P Tyrer, Jennifer A Doherty, Douglas A Stram, Jolanta Kupryjanczyk, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Beata Spiewankiewicz, Emily J Myers, Georgia Chenevix-Trench, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Alexander Hein, Ignace Vergote, Els Van Nieuwenhuysen, Diether Lambrechts, Kristine G Wicklund, Ursula Eilber, Shan Wang-Gohrke, et al.

Journal article  |  2015  |  Gynecologic Oncology

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Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots

T Nguyen-Dumont, M Mahmoodi, F Hammet, T Tran, H Tsimiklis, GG Giles, JL Hopper, MC Southey, DJ Park

Journal article  |  2015  |  Analytical Biochemistry

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Karoline B Kuchenbaecker, Susan J Ramus, Jonathan Tyrer, Andrew Lee, Howard C Shen, Jonathan Beesley, Kate Lawrenson, Lesley McGuffog, Sue Healey, Janet M Lee, Tassja J Spindler, Yvonne G Lin, Tanja Pejovic, Yukie Bean, Qiyuan Li, Simon Coetzee, Dennis Hazelett, Alexander Miron, Melissa Southey, Mary Beth Terry, et al.

Journal article  |  2015  |  Nature Genetics

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Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

Maria Kabisch, Justo Lorenzo Bermejo, Thomas Duennebier, Shibo Ying, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Mitul Shah, Barbara J Perkins, Kamila Czene, Hatef Darabi, Mikael Eriksson, Stig E Bojesen, Borge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Diether Lambrechts, Patrick Neven, Stephanie Peeters, et al.

Journal article  |  2015  |  Carcinogenesis

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Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

Luis G Carvajal-Carmona, Tracy A O'Mara, Jodie N Painter, Felicity A Lose, Joe Dennis, Kyriaki Michailidou, Jonathan P Tyrer, Shahana Ahmed, Kaltin Ferguson, Catherine S Healey, Karen Pooley, Jonathan Beesley, Timothy Cheng, Angela Jones, Kimberley Howarth, Lynn Martin, Maggie Gorman, Shirley Hodgson, Nicholas Wentzensen, Peter A Fasching, et al.

Journal article  |  2015  |  Human Genetics

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Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1

Dylan M Glubb, Mel J Maranian, Kyriaki Michailidou, Karen A Pooley, Kerstin B Meyer, Siddhartha Kar, Saskia Carlebur, Martin O'Reilly, Joshua A Betts, Kristine M Hillman, Susanne Kaufmann, Jonathan Beesley, Sander Canisius, John L Hopper, Melissa C Southey, Helen Tsimiklis, Carmel Apicella, Marjanka K Schmidt, Annegien Broeks, Frans B Hogervorst, et al.

Journal article  |  2015  |  The American Journal of Human Genetics

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Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives

Aung Ko Win, Daniel D Buchanan, Christophe Rosty, Robert J MacInnis, James G Dowty, Gillian S Dite, Graham G Giles, Melissa C Southey, Joanne P Young, Mark Clendenning, Michael D Walsh, Rhiannon J Walters, Alex Boussioutas, Thomas C Smyrk, Stephen N Thibodeau, John A Baron, John D Potter, Polly A Newcomb, Loic Le Marchand, Robert W Haile, et al.

Journal article  |  2015  |  GUT

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Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Paolo Peterlongo, Jenny Chang-Claude, Kirsten B Moysich, Anja Rudolph, Rita K Schmutzler, Jacques Simard, Penny Soucy, Rosalind A Eeles, Douglas F Easton, Ute Hamann, Stefan Wilkening, Bowang Chen, Matti A Rookus, MarjankaK Schmidt, Frederieke H van der Baan, Amanda B Spurdle, Logan C Walker, Felicity Lose, Ana-Teresa Maia, Marco Montagna, et al.

Journal article  |  2015  |  Cancer Epidemiology Biomarkers & Prevention

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Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Wei-Yu Lin, Nicola J Camp, Maya Ghoussaini, Jonathan Beesley, Kyriaki Michailidou, John L Hopper, Carmel Apicella, Melissa C Southey, Jennifer Stone, Marjanka K Schmidt, Annegien Broeks, Laura J Van't Veer, Emiel J Th Rutgers, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart-Brown, Pornthep Siriwanarangsan, Peter A Fasching, Lothar Haeberle, Arif B Ekici, et al.

Journal article  |  2015  |  Human Molecular Genetics

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Rare genetic variants: making the connection with breast cancer susceptibility

Tu Nguyen-Dumont, Jenna Stewart, Ingrid Winship, Melissa C Southey

Journal article  |  2015  |  AIMS Genetics

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Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).

Heather SL Jim, Hui-Yi Lin, Jonathan P Tyrer, Kate Lawrenson, Joe Dennis, Ganna Chornokur, Zhihua Chen, Ann Y Chen, Jennifer Permuth-Wey, Katja Kh Aben, Hoda Anton-Culver, Natalia Antonenkova, Fiona Bruinsma, Elisa V Bandera, Yukie T Bean, Matthias W Beckmann, Maria Bisogna, Line Bjorge, Natalia Bogdanova, Louise A Brinton, et al.

Journal article  |  2015  |  Journal of Genetics and Genome Research

Disruption in circadian gene expression, whether due to genetic variation or environmental factors (e.g., light at night, shiftwor..

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Abridged adapter primers increase the target scope of Hi-Plex

Nguyen-Dumont Tu, Fleur Hammet, Maryam Mahmoodi, Bernard J Pope, Graham G Giles, Graham G Hopper, Melissa C Southey, Daniel J Park

Journal article  |  2015  |  BioTechniques

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Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry

Nguyen-Dumont Tu, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Zhi L Teo, Roger Li, Bernard J Pope, Mary Beth Terry, Saundra S Buys, Mary Daly, John L Hopper, Ingrid Winship, David E Goldgar, Daniel J Park, Melissa C Southey

Journal article  |  2015  |  Breast Cancer Research and Treatment

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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Karoline B Kuchenbaecker, Susan L Neuhausen, Mark Robson, Daniel Barrowdale, Lesley McGuffog, Anna Marie Mulligan, Irene L Andrulis, Amanda B Spurdle, Marjanka K Schmidt, Rita K Schmutzler, Christoph Engel, Barbara Wappenschmidt, Heli Nevanlinna, Mads Thomassen, Melissa Southey, Paolo Radice, Susan J Ramus, Susan M Domchek, Katherine L Nathanson, Andrew Lee, et al.

Journal article  |  2014  |  Breast Cancer Research

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Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

Zhaoming Wang, Bin Zhu, Mingfeng Zhang, Hemang Parikh, Jinping Jia, Charles C Chung, Joshua N Sampson, Jason W Hoskins, Amy Hutchinson, Laurie Burdette, Abdisamad Ibrahim, Christopher Hautman, Preethi S Raj, Christian C Abnet, Andrew A Adjei, Anders Ahlbom, Demetrius Albanes, Naomi E Allen, Christine B Ambrosone, Melinda Aldrich, et al.

Journal article  |  2014  |  Human Molecular Genetics

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Epigenome-wide methylation in DNA from peripheral blood as a marker of risk for breast cancer

Gianluca Severi, Melissa C Southey, Dallas R English, Chol-hee Jung, Andrew Lonie, Catriona McLean, Helen Tsimiklis, John L Hopper, Graham G Giles, Laura Baglietto

Journal article  |  2014  |  BREAST CANCER RESEARCH AND TREATMENT

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Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

Kristen S Purrington, Seth Slettedahl, Manjeet K Bolla, Kyriaki Michailidou, Kamila Czene, Heli Nevanlinna, Stig E Bojesen, Irene L Andrulis, Angela Cox, Per Hall, Jane Carpenter, Drakoulis Yannoukakos, Christopher A Haiman, Peter A Fasching, Arto Mannermaa, Robert Winqvist, Hermann Brenner, Annika Lindblom, Georgia Chenevix-Trench, Javier Benitez, et al.

Journal article  |  2014  |  Human Molecular Genetics

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Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

Roger L Milne, Barbara Burwinkel, Kyriaki Michailidou, Jose-Ignacio Arias-Perez, M Pilar Zamora, Primitiva Menendez-Rodriguez, David Hardisson, Marta Mendiola, Anna Gonzalez-Neira, Guillermo Pita, M Rosario Alonso, Joe Dennis, Qin Wang, Manjeet K Bolla, Anthony Swerdlow, Alan Ashworth, Nick Orr, Minouk Schoemaker, Yon-Dschun Ko, Hiltrud Brauch, et al.

Journal article  |  2014  |  HUMAN MOLECULAR GENETICS

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MicroRNA Related Polymorphisms and Breast Cancer Risk

Sofia Khan, Dario Greco, Kyriaki Michailidou, Roger L Milne, Taru A Muranen, Tuomas Heikkinen, Kirsimari Aaltonen, Joe Dennis, Manjeet K Bolla, Jianjun Liu, Per Hall, Astrid Irwanto, Keith Humphreys, Jingmei Li, Kamila Czene, Jenny Chang-Claude, Rebecca Hein, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, et al.

Journal article  |  2014  |  PLOS ONE

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Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

James R Cerhan, Sonja I Berndt, Joseph Vijai, Herve Ghesquieres, James McKay, Sophia S Wang, Zhaoming Wang, Meredith Yeager, Lucia Conde, Paul IW de Bakker, Alexandra Nieters, David Cox, Laurie Burdett, Alain Monnereau, Christopher R Flowers, Anneclaire J De Roos, Angela R Brooks-Wilson, Qing Lan, Gianluca Severi, Mads Melbye, et al.

Journal article  |  2014  |  Nature Genetics

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Effects of Tamoxifen and oestrogen on histology and radiographic density in high and low mammographic density human breast tissues maintained in murine tissue engineering chambers

GL Chew, CW Huo, D Huang, T Blick, P Hill, J Cawson, H Frazer, MC Southey, JL Hopper, K Britt, MA Henderson, I Haviv, EW Thompson

Journal article  |  2014  |  BREAST CANCER RESEARCH AND TREATMENT

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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

John RB Perry, Felix Day, Cathy E Elks, Patrick Sulem, Deborah J Thompson, Teresa Ferreira, Chunyan He, Daniel I Chasman, Toenu Esko, Gudmar Thorleifsson, Eva Albrecht, Wei Q Ang, Tanguy Corre, Diana L Cousminer, Bjarke Feenstra, Nora Franceschini, Andrea Ganna, Andrew D Johnson, Sanela Kjellqvist, Kathryn L Lunetta, et al.

Journal article  |  2014  |  Nature

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Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk

Linda E Kelemen, Kathryn L Terry, Marc T Goodman, Penelope M Webb, Elisa V Bandera, Valerie McGuire, Mary Anne Rossing, Qinggang Wang, Ed Dicks, Jonathan P Tyrer, Honglin Song, Jolanta Kupryjanczyk, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Agnieszka Timorek, Usha Menon, Aleksandra Gentry-Maharaj, Simon A Gayther, Susan J Ramus, Steven A Narod, et al.

Journal article  |  2014  |  Molecular Nutrition & Food Research

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A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

Ali Amin Al Olama, Zsofia Kote-Jarai, Sonja I Berndt, David V Conti, Fredrick Schumacher, Ying Han, Sara Benlloch, Dennis J Hazelett, Zhaoming Wang, Ed Saunders, Daniel Leongamornlert, Sara Lindstrom, Sara Jugurnauth-Little, Tokhir Dadaev, Malgorzata Tymrakiewicz, Daniel O Stram, Kristin Rand, Peggy Wan, Alex Stram, Xin Sheng, et al.

Journal article  |  2014  |  Nature Genetics

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Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

Sara Lindstroem, Deborah J Thompson, Andrew D Paterson, Jingmei Li, Gretchen L Gierach, Christopher Scott, Jennifer Stone, Julie A Douglas, Isabel dos-Santos-Silva, Pablo Fernandez-Navarro, Jajini Verghase, Paula Smith, Judith Brown, Robert Luben, Nicholas J Wareham, Ruth JF Loos, John A Heit, V Shane Pankratz, Aaron Norman, Ellen L Goode, et al.

Journal article  |  2014  |  Nature Communications

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A three-protein biomarker panel assessed in diagnostic tissue predicts death from prostate cancer for men with localized disease

Gianluca Severi, Liesel M FitzGerald, David C Muller, John Pedersen, Anthony Longano, Melissa C Southey, John L Hopper, Dallas R English, Graham G Giles, John Mills

Journal article  |  2014  |  CANCER MEDICINE

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Should the grading of colorectal adenocarcinoma include microsatellite instability status?

Christophe Rosty, Elizabeth J Williamson, Mark Clendenning, Rhiannon J Walters, Aung K Win, Mark A Jenkins, John L Hopper, Ingrid M Winship, Melissa C Southey, Graham G Giles, Dallas R English, Daniel D Buchanan

Journal article  |  2014  |  HUMAN PATHOLOGY

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Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

Maya Ghoussaini, Stacey L Edwards, Kyriaki Michailidou, Silje Nord, Richard Cowper-Sal Lari, Kinjal Desai, Siddhartha Kar, Kristine M Hillman, Susanne Kaufmann, Dylan M Glubb, Jonathan Beesley, Joe Dennis, Manjeet K Bolla, Qin Wang, Ed Dicks, Qi Guo, Marjanka K Schmidt, Mitul Shah, Robert Luben, Judith Brown, et al.

Journal article  |  2014  |  NATURE COMMUNICATIONS

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Detection of infectious organisms in archival prostate cancer tissues

Melissa A Yow, Sepehr N Tabrizi, Gianluca Severi, Damien M Bolton, John Pedersen, Anthony Longano, Suzanne M Garland, Melissa C Southey, Graham G Giles

Journal article  |  2014  |  BMC Cancer

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Breast-Cancer Risk in Families with Mutations in PALB2

AC Antoniou, S Casadei, T Heikkinen, D Barrowdale, K Pylkaes, J Roberts, A Lee, D Subramanian, K De Leeneer, F Fostira, E Tomiak, SL Neuhausen, ZL Teo, S Khan, K Aittomaeki, JS Moilanen, C Turnbull, S Seal, A Mannermaa, A Kallioniemi, et al.

Journal article  |  2014  |  New England Journal of Medicine

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Re: Microsatellite Instability and BRAF Mutation Testing in Colorectal Cancer Prognostication

Christophe Rosty, Elizabeth J Wiliamson, Mark Clendening, Rhianon J Walters, Michael D Walsh, Aung K Win, Mark A Jenkins, John L Hoper, Ingrid Winship, Melisa C Southey, Graham G Giles, Dalas R English, Daniel D Buchanan

Journal article  |  2014  |  JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

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Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome-Spectrum Cancers

Daniel J Park, Kayoko Tao, Florence Le Calvez-Kelm, Nguyen-Dumont Tu, Nivonirina Robinot, Fleur Hammet, Fabrice Odefrey, Helen Tsimiklis, Zhi L Teo, Louise B Thingholm, Erin L Young, Catherine Voegele, Andrew Lonie, Bernard J Pope, Terrell C Roane, Russell Bell, Hao Hu, undefined Shankaracharya, Chad D Huff, Jonathan Ellis, et al.

Journal article  |  2014  |  Cancer Discovery

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2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

Jingmei Li, Linda S Lindstroem, Jia N Foo, Sajjad Rafiq, Marjanka K Schmidt, Paul DP Pharoah, Kyriaki Michailidou, Joe Dennis, Manjeet K Bolla, Qin Wang, Laura J Van't Veer, Sten Cornelissen, Emiel Rutgers, Melissa C Southey, Carmel Apicella, Gillian S Dite, John L Hopper, Peter A Fasching, Lothar Haeberle, Arif B Ekici, et al.

Journal article  |  2014  |  Nature Communications

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DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

John RB Perry, Yi-Hsiang Hsu, Daniel I Chasman, Andrew D Johnson, Cathy Elks, Eva Albrecht, Irene L Andrulis, Jonathan Beesley, Gerald S Berenson, Sven Bergmann, Stig E Bojesen, Manjeet K Bolla, Judith Brown, Julie E Buring, Harry Campbell, Jenny Chang-Claude, Georgia Chenevix-Trench, Tanguy Corre, Fergus J Couch, Angela Cox, et al.

Journal article  |  2014  |  Human Molecular Genetics

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Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

Kristen S Purrington, Susan Slager, Diana Eccles, Drakoulis Yannoukakos, Peter A Fasching, Penelope Miron, Jane Carpenter, Jenny Chang-Claude, Nicholas G Martin, Grant W Montgomery, Vessela Kristensen, Hoda Anton-Culver, Paul Goodfellow, William J Tapper, Sajjad Rafiq, Susan M Gerty, Lorraine Durcan, Irene Konstantopoulou, Florentia Fostira, Athanassios Vratimos, et al.

Journal article  |  2014  |  Carcinogenesis

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Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA

Madalene A Earp, Linda E Kelemen, Anthony M Magliocco, Kenneth D Swenerton, Georgia Chenevix-Trench, Yi Lu, Alexander Hein, Arif B Ekici, Matthias W Beckmann, Peter A Fasching, Diether Lambrechts, Evelyn Despierre, Ignace Vergote, Sandrina Lambrechts, Jennifer A Doherty, Mary Anne Rossing, Jenny Chang-Claude, Anja Rudolph, Grace Friel, Kirsten B Moysich, et al.

Journal article  |  2014  |  HUMAN GENETICS

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A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium

Roger L Milne, Jesus Herranz, Kyriaki Michailidou, Joe Dennis, Jonathan P Tyrer, M Pilar Zamora, Jose Ignacio Arias-Perez, Anna Gonzalez-Neira, Guillermo Pita, M Rosario Alonso, Qin Wang, Manjeet K Bolla, Kamila Czene, Mikael Eriksson, Keith Humphreys, Hatef Darabi, Jingmei Li, Hoda Anton-Culver, Susan L Neuhausen, Argyrios Ziogas, et al.

Journal article  |  2014  |  Human Molecular Genetics

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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Ana Osorio, Roger L Milne, Karoline Kuchenbaecker, Tereza Vaclova, Guillermo Pita, Rosario Alonso, Paolo Peterlongo, Ignacio Blanco, Miguel de la Hoya, Mercedes Duran, Orland Diez, Teresa Ramon y Cajal, Irene Konstantopoulou, Cristina Martinez-Bouzas, Raquel Andres Conejero, Penny Soucy, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Brita Arver, et al.

Journal article  |  2014  |  PLoS Genetics

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Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Elinor Sawyer, Rebecca Roylance, Christos Petridis, Mark N Brook, Salpie Nowinski, Efterpi Papouli, Olivia Fletcher, Sarah Pinder, Andrew Hanby, Kelly Kohut, Patricia Gorman, Michele Caneppele, Julian Peto, Isabel dos Santos Silva, Nichola Johnson, Ruth Swann, Miriam Dwek, Katherine-Anne Perkins, Cheryl Gillett, Richard Houlston, et al.

Journal article  |  2014  |  PLoS Genetics

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A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

Habibul Ahsan, Jerry Halpern, Muhammad G Kibriya, Brandon L Pierce, Lin Tong, Eric Gamazon, Valerie McGuire, Anna Felberg, Jianxin Shi, Farzana Jasmine, Shantanu Roy, Rachelle Brutus, Maria Argos, Stephanie Melkonian, Jenny Chang-Claude, Irene Andrulis, John L Hopper, Esther M John, Kathi Malone, Giske Ursin, et al.

Journal article  |  2014  |  CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

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Reproductive risk factors and oestrogen/progesterone receptor-negative breast cancer in the Breast Cancer Family Registry

ME Work, EM John, IL Andrulis, JA Knight, Y Liao, AM Mulligan, MC Southey, GG Giles, GS Dite, C Apicella, H Hibshoosh, JL Hopper, MB Terry

Journal article  |  2014  |  British Journal of Cancer

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FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

D Agarwal, S Pineda, K Michailidou, J Herranz, G Pita, LT Moreno, MR Alonso, J Dennis, Q Wang, MK Bolla, KB Meyer, P Menendez-Rodriguez, D Hardisson, M Mendiola, A Gonzalez-Neira, A Lindblom, S Margolin, A Swerdlow, A Ashworth, N Orr, et al.

Journal article  |  2014  |  BRITISH JOURNAL OF CANCER

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Associations of Mammographic Dense and Nondense Areas and Body Mass Index With Risk of Breast Cancer

Laura Baglietto, Kavitha Krishnan, Jennifer Stone, Carmel Apicella, Melissa C Southey, Dallas R English, John L Hopper, Graham G Giles

Journal article  |  2014  |  American Journal of Epidemiology

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A Genome-Wide "Pleiotropy Scan'' Does Not Identify New Susceptibility Loci for Estrogen Receptor Negative Breast Cancer

Daniele Campa, Myrto Barrdahl, Konstantinos K Tsilidis, Gianluca Severi, W Ryan Diver, Afshan Siddiq, Stephen Chanock, Robert N Hoover, Regina G Ziegler, Christine D Berg, Saundra S Buys, Christopher A Haiman, Brian E Henderson, Fredrick R Schumacher, Loic Le Marchand, Dieter Flesch-Janys, Sara Lindstroem, David J Hunter, Susan E Hankinson, Walter C Willett, et al.

Journal article  |  2014  |  PLoS One

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Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Phillip J Whiley, Miguel de la Hoya, Mads Thomassen, Alexandra Becker, Rita Brandao, Inge Sokilde Pedersen, Marco Montagna, Mireia Menendez, Francisco Quiles, Sara Gutierrez-Enriquez, Kim De Leeneer, Anna Tenes, Gemma Montalban, Demis Tserpelis, Toshio Yoshimatsu, Carole Tirapo, Michela Raponi, Trinidad Caldes, Ana Blanco, Marta Santamarina, et al.

Journal article  |  2014  |  Clinical Chemistry: international journal of molecular diagnostics and laboratory medicine

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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

Francesca Damiola, Maroulio Pertesi, Javier Oliver, Florence Le Calvez-Kelm, Catherine Voegele, Erin L Young, Nivonirina Robinot, Nathalie Forey, Geoffroy Durand, Maxime P Vallee, Kayoko Tao, Terrell C Roane, Gareth J Williams, John L Hopper, Melissa C Southey, Irene L Andrulis, Esther M John, David E Goldgar, Fabienne Lesueur, Sean V Tavtigian

Journal article  |  2014  |  Breast Cancer Research

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Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

Nichola Johnson, Frank Dudbridge, Nick Orr, Lorna Gibson, Michael E Jones, Minouk J Schoemaker, Elizabeth J Folkerd, Ben P Haynes, John L Hopper, Melissa C Southey, Gillian S Dite, Carmel Apicella, Marjanka K Schmidt, Annegien Broeks, Laura J Van't Veer, Femke Atsma, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, et al.

Journal article  |  2014  |  Breast Cancer Research

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Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Amanda B Spurdle, Fergus J Couch, Michael T Parsons, Lesley McGuffog, Daniel Barrowdale, Manjeet K Bolla, Qin Wang, Sue Healey, Rita Katharina Schmutzler, Barbara Wappenschmidt, Kerstin Rhiem, Eric Hahnen, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Hansjoerg Plendl, Dieter Niederacher, Christian Sutter, Shan Wang-Gohrke, et al.

Journal article  |  2014  |  Breast Cancer Research

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Identification of New Genetic Susceptibility Loci for Breast Cancer Through Consideration of Gene-Environment Interactions

Anja Schoeps, Anja Rudolph, Petra Seibold, Alison M Dunning, Roger L Milne, Stig E Bojesen, Anthony Swerdlow, Irene Andrulis, Hermann Brenner, Sabine Behrens, Nicholas Orr, Michael Jones, Alan Ashworth, Jingmei Li, Helen Cramp, Dan Connley, Kamila Czene, Hatef Darabi, Stephen J Chanock, Jolanta Lissowska, et al.

Journal article  |  2014  |  Genetic Epidemiology

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Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1

Kerstin B Meyer, Martin O'Reilly, Kyriaki Michailidou, Saskia Carlebur, Stacey L Edwards, Juliet D French, Radhika Prathalingham, Joe Dennis, Manjeet K Bolla, Qin Wang, Ines de Santiago, John L Hopper, Helen Tsimiklis, Carmel Apicella, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Laura J Van't Veer, Frans B Hogervorst, Kenneth Muir, et al.

Journal article  |  2013  |  American Journal of Human Genetics

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The incidence of PALB2 c.3113G > A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia

Zhi L Teo, Sarah D Sawyer, Paul A James, Gillian Mitchell, Alison H Trainer, Geoffrey J Lindeman, Kylie Shackleton, Linda Cicciarelli, Melissa C Southey

Journal article  |  2013  |  FAMILIAL CANCER

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Explaining Variance in the Cumulus Mammographic Measures That Predict Breast Cancer Risk: A Twins and Sisters Study

Tuong L Nguyen, Daniel F Schmidt, Enes Makalic, Gillian S Dite, Jennifer Stone, Carmel Apicella, Minh Bui, Robert J MacInnis, Fabrice Odefrey, Jennifer N Cawson, Susan A Treloar, Melissa C Southey, Graham G Giles, John L Hopper

Journal article  |  2013  |  Cancer Epidemiology, Biomarkers & Prevention

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Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study

Anja Rudolph, Rebecca Hein, Sara Lindstroem, Lars Beckmann, Sabine Behrens, Jianjun Liu, Hugues Aschard, Manjeet K Bolla, Jean Wang, Therese Truong, Emilie Cordina-Duverger, Florence Menegaux, Thomas Bruening, Volker Harth, Gianluca Severi, Laura Baglietto, Melissa Southey, Stephen J Chanock, Jolanta Lissowska, Jonine D Figueroa, et al.

Journal article  |  2013  |  Endocrine - Related Cancer

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Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing

Nguyen-Dumont Tu, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Melissa C Southey, Daniel J Park

Journal article  |  2013  |  ANALYTICAL BIOCHEMISTRY

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Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

Nguyen-Dumont Tu, Zhi L Teo, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Nelly Sabbaghian, Marc Tischkowitz, William D Foulkes, Graham G Giles, John L Hopper, Melissa C Southey, Daniel J Park

Journal article  |  2013  |  BMC MEDICAL GENOMICS

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Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines

Logan C Walker, Phillip J Whiley, Claude Houdayer, Thomas VO Hansen, Ana Vega, Marta Santamarina, Ana Blanco, Laura Fachal, Melissa C Southey, Alan Lafferty, Mara Colombo, Giovanna De Vecchi, Paolo Radice, Amanda B Spurdle

Journal article  |  2013  |  Human Mutation

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Prospective validation of the breast cancer risk prediction model BOADICEA and a batch-mode version BOADICEACentre

RJ MacInnis, A Bickerstaffe, C Apicella, GS Dite, JG Dowty, K Aujard, K-A Phillips, P Weideman, A Lee, MB Terry, GG Giles, MC Southey, AC Antoniou, JL Hopper

Journal article  |  2013  |  BRITISH JOURNAL OF CANCER

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Tamoxifen and Risk of Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

Kelly-Anne Phillips, Roger L Milne, Matti A Rookus, Mary B Daly, Antonis C Antoniou, Susan Peock, Debra Frost, Douglas F Easton, Steve Ellis, Michael L Friedlander, Saundra S Buys, Nadine Andrieu, Catherine Nogues, Dominique Stoppa-Lyonnet, Valerie Bonadona, Pascal Pujol, Sue Anne McLachlan, Esther M John, Maartje J Hooning, Caroline Seynaeve, et al.

Journal article  |  2013  |  Journal of Clinical Oncology

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Diagnostic Chest X-Rays and Breast Cancer Risk before Age 50 Years for BRCA1 and BRCA2 Mutation Carriers

Esther M John, Valerie McGuire, Duncan Thomas, Robert Haile, Hilmi Ozcelik, Roger L Milne, Anna Felberg, Dee W West, Alexander Miron, Julia A Knight, Mary Beth Terry, Mary Daly, Saundra S Buys, Irene L Andrulis, John L Hopper, Melissa C Southey, Graham G Giles, Carmel Apicella, Heather Thorne, Alice S Whittemore

Journal article  |  2013  |  CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

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A high-plex PCR approach for massively parallel sequencing

Nguyen-Dumont Tu, Bernard J Pope, Fleur Hammet, Melissa C Southey, Daniel J Park

Journal article  |  2013  |  BIOTECHNIQUES

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Tumour morphology predicts PALB2 germline mutation status

ZL Teo, E Provenzano, GS Dite, DJ Park, C Apicella, SD Sawyer, PA James, G Mitchell, AH Trainer, GJ Lindeman, K Shackleton, L Cicciarelli, SS Buys, IL Andrulis, AM Mulligan, G Glendon, EM John, MB Terry, M Daly, FA Odefrey, et al.

Journal article  |  2013  |  BRITISH JOURNAL OF CANCER

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Dynamic changes in high and low mammographic density human breast tissues maintained in murine tissue engineering chambers during various murine peripartum states and over time

GL Chew, D Huang, CW Huo, T Blick, P Hill, J Cawson, H Frazer, MD Southey, JL Hopper, MA Henderson, I Haviv, EW Thompson

Journal article  |  2013  |  BREAST CANCER RESEARCH AND TREATMENT

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PIK3CA Activating Mutation in Colorectal Carcinoma: Associations with Molecular Features and Survival

Christophe Rosty, Joanne P Young, Michael D Walsh, Mark Clendenning, Kristy Sanderson, Rhiannon J Walters, Susan Parry, Mark A Jenkins, Aung Ko Win, Melissa C Southey, John L Hopper, Graham G Giles, Elizabeth J Williamson, Dallas R English, Daniel D Buchanan

Journal article  |  2013  |  PLOS ONE

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Colorectal carcinomas with KRAS mutation are associated with distinctive morphological and molecular features

Christophe Rosty, Joanne P Young, Michael D Walsh, Mark Clendenning, Rhiannon J Walters, Sally Pearson, Erika Pavluk, Belinda Nagler, David Pakenas, Jeremy R Jass, Mark A Jenkins, Aung Ko Win, Melissa C Southey, Susan Parry, John L Hopper, Graham G Giles, Elizabeth Williamson, Dallas R English, Daniel D Buchanan

Journal article  |  2013  |  MODERN PATHOLOGY

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Using SNP genotypes to improve the discrimination of a simple breast cancer risk prediction model

Gillian S Dite, Maryam Mahmoodi, Adrian Bickerstaffe, Fleur Hammet, Robert J Macinnis, Helen Tsimiklis, James G Dowty, Carmel Apicella, Kelly-Anne Phillips, Graham G Giles, Melissa C Southey, John L Hopper

Journal article  |  2013  |  Breast Cancer Research and Treatment

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Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers

Juliet D French, Maya Ghoussaini, Stacey L Edwards, Kerstin B Meyer, Kyriaki Michailidou, Shahana Ahmed, Sofia Khan, Mel J Maranian, Martin O'Reilly, Kristine M Hillman, Joshua A Betts, Thomas Carro, Peter J Bailey, Ed Dicks, Jonathan Beesley, Jonathan Tyrer, Ana-Teresa Maia, Andrew Beck, Nicholas W Knoblauch, Constance Chen, et al.

Journal article  |  2013  |  American Journal of Human Genetics

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Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Montserrat Garcia-Closas, Fergus J Couch, Sara Lindstrom, Kyriaki Michailidouo, Marjanka K Schmidt, Mark N Brook, Nick Orr, Suhn Kyong Rhie, Elio Riboli, Heather S Feigelson, Loic Le Marchand, Julie E Buring, Diana Eccles, Penelope Miron, Peter A Fasching, Hiltrud Brauch, Jenny Chang-Claude, Jane Carpenter, Andrew K Godwin, Heli Nevanlinna, et al.

Journal article  |  2013  |  Nature Genetics

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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Stig E Bojesen, Karen A Pooley, Sharon E Johnatty, Jonathan Beesley, Kyriaki Michailidou, Jonathan P Tyrer, Stacey L Edwards, Hilda A Pickett, Howard C Shen, Chanel E Smart, Kristine M Hillman, Phuong L Mai, Kate Lawrenson, Michael D Stutz, Yi Lu, Rod Karevan, Nicholas Woods, Rebecca L Johnston, Juliet D French, Xiaoqing Chen, et al.

Journal article  |  2013  |  Nature Genetics

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GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

Paul DP Pharoah, Ya-Yu Tsai, Susan J Ramus, Catherine M Phelan, Ellen L Goode, Kate Lawrenson, Melissa Buckley, Brooke L Fridley, Jonathan P Tyrer, Howard Shen, Rachel Weber, Rod Karevan, Melissa C Larson, Honglin Song, Daniel C Tessier, Francois Bacot, Daniel Vincent, Julie M Cunningham, Joe Dennis, Ed Dicks, et al.

Journal article  |  2013  |  Nature Genetics

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Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

Rosalind A Eeles, Ali Amin Al Olama, Sara Benlloch, Edward J Saunders, Daniel A Leongamornlert, Malgorzata Tymrakiewicz, Maya Ghoussaini, Craig Luccarini, Joe Dennis, Sarah Jugurnauth-Little, Tokhir Dadaev, David E Neal, Freddie C Hamdy, Jenny L Donovan, Ken Muir, Graham G Giles, Gianluca Severi, Fredrik Wiklund, Henrik Gronberg, Christopher A Haiman, et al.

Journal article  |  2013  |  Nature Genetics

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Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Kyriaki Michailidou, Per Hall, Anna Gonzalez-Neira, Maya Ghoussaini, Joe Dennis, Roger L Milne, Marjanka K Schmidt, Jenny Chang-Claude, Stig E Bojesen, Manjeet K Bolla, Qin Wang, Ed Dicks, Andrew Lee, Clare Turnbull, Nazneen Rahman, Olivia Fletcher, Julian Peto, Lorna Gibson, Isabel dos Santos Silva, Heli Nevanlinna, et al.

Journal article  |  2013  |  Nature Genetics

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Confirmation of the reduction of hormone replacement therapy-related breast cancer risk for carriers of the HSD17B1_937_G variant

Ofure Obazee, Christina Justenhoven, Stefan Winter, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Ulf Hannelius, Jingmei Li, Keith Humphreys, Per Hall, Graham Giles, Gianluca Severi, Laura Baglietto, Melissa Southey, Sylvia Rabstein, Volker Harth, Anne Lotz, Beate Pesch, Thomas Bruening, et al.

Journal article  |  2013  |  BREAST CANCER RESEARCH AND TREATMENT

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The use of DNA from archival dried blood spots with the Infinium HumanMethylation450 array

JiHoon E Joo, Ee Ming Wong, Laura Baglietto, Chol-Hee Jung, Helen Tsimiklis, Daniel J Park, Nicholas C Wong, Dallas R English, John L Hopper, Gianluca Severi, Graham G Giles, Melissa C Southey

Journal article  |  2013  |  BMC BIOTECHNOLOGY

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Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Mia M Gaudet, Karoline B Kuchenbaecker, Joseph Vijai, Robert J Klein, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Alison M Dunning, Andrew Lee, Joe Dennis, Sue Healey, Ed Dicks, Penny Soucy, Olgam Sinilnikova, Vernon S Pankratz, Xianshu Wang, Ronald C Eldridge, Daniel C Tessier, Daniel Vincent, Francois Bacot, et al.

Journal article  |  2013  |  PLOS GENETICS

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Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

Jennifer Permuth-Wey, Kate Lawrenson, Howard C Shen, Aneliya Velkova, Jonathan P Tyrer, Zhihua Chen, Hui-Yi Lin, Y Ann Chen, Ya-Yu Tsai, Xiaotao Qu, Susan J Ramus, Rod Karevan, Janet Lee, Nathan Lee, Melissa C Larson, Katja K Aben, Hoda Anton-Culver, Natalia Antonenkova, Antonis C Antoniou, Sebastian M Armasu, et al.

Journal article  |  2013  |  Nature Communications

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Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

Hui Shen, Brooke L Fridley, Honglin Song, Kate Lawrenson, Julie M Cunningham, Susan J Ramus, Mine S Cicek, Jonathan Tyrer, Douglas Stram, Melissa C Larson, Martin Koebel, Argyrios Ziogas, Wei Zheng, Hannah P Yang, Anna H Wu, Eva L Wozniak, Yin Ling Woo, Boris Winterhoff, Elisabeth Wik, Alice S Whittemore, et al.

Journal article  |  2013  |  NATURE COMMUNICATIONS

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Evidence of Gene-Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

Stefan Nickels, Therese Truong, Rebecca Hein, Kristen Stevens, Katharina Buck, Sabine Behrens, Ursula Eilber, Martina Schmidt, Lothar Haeberle, Alina Vrieling, Mia Gaudet, Jonine Figueroa, Nils Schoof, Amanda B Spurdle, Anja Rudolph, Peter A Fasching, John L Hopper, Enes Makalic, Daniel F Schmidt, Melissa C Southey, et al.

Journal article  |  2013  |  PLoS Genetics

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Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Fergus J Couch, Xianshu Wang, Lesley McGuffog, Andrew Lee, Curtis Olswold, Karoline B Kuchenbaecker, Penny Soucy, Zachary Fredericksen, Daniel Barrowdale, Joe Dennis, Mia M Gaudet, Ed Dicks, Matthew Kosel, Sue Healey, Olga M Sinilnikova, Adam Lee, Francois Bacot, Daniel Vincent, Frans BL Hogervorst, Susan Peock, et al.

Journal article  |  2013  |  PLOS GENETICS

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FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

Bernard J Pope, Nguyen-Dumont Tu, Fabrice Odefrey, Fleur Hammet, Russell Bell, Kayoko Tao, Sean V Tavtigian, David E Goldgar, Andrew Lonie, Melissa C Southey, Daniel J Park

Journal article  |  2013  |  BMC BIOINFORMATICS

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Population-Based Estimate of Prostate Cancer Risk for Carriers of the HOXB13 Missense Mutation G84E

Robert J MacInnis, Gianluca Severi, Laura Baglietto, James G Dowty, Mark A Jenkins, Melissa C Southey, John L Hopper, Graham G Giles

Journal article  |  2013  |  PLOS ONE

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Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

Francisco Javier Gracia-Aznarez, Victoria Fernandez, Guillermo Pita, Paolo Peterlongo, Orlando Dominguez, Miguel de la Hoya, Mercedes Duran, Ana Osorio, Leticia Moreno, Anna Gonzalez-Neira, Juan Manuel Rosa-Rosa, Olga Sinilnikova, Sylvie Mazoyer, John Hopper, Conchi Lazaro, Melissa Southey, Fabrice Odefrey, Siranoush Manoukian, Irene Catucci, Trinidad Caldes, et al.

Journal article  |  2013  |  PLoS One

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A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease

Ali Amin Al Olama, Zsofia Kote-Jarai, Fredrick R Schumacher, Fredrik Wiklund, Sonja I Berndt, Sara Benlloch, Graham G Giles, Gianluca Severi, David E Neal, Freddie C Hamdy, Jenny L Donovan, David J Hunter, Brian E Henderson, Michael J Thun, Michael Gaziano, Edward L Giovannucci, Afshan Siddiq, Ruth C Travis, David G Cox, Federico Canzian, et al.

Journal article  |  2013  |  Human Molecular Genetics

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Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Zhi L Teo, Daniel J Park, Elena Provenzano, Catherine A Chatfield, Fabrice A Odefrey, Nguyen-Dumont Tu, James G Dowty, John L Hopper, Ingrid Winship, David E Goldgar, Melissa C Southey

Journal article  |  2013  |  Breast Cancer Research

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Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

ZL Teo, DJ Park, E Provenzano, undefined Chatfield, FA Odefrey, undefined Nguyen-Dumont, undefined KConFab, JG Dowty, JL Hopper, IM Winship, E Goldgar, MC Southey

Journal article  |  2013  |  Breast Cancer Research

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Adult Serum Cytokine Concentrations and the Persistence of Asthma

RK Kandane-Rathnayake, MLK Tang, JA Simpson, JA Burgess, D Meszaros, I Feather, MC Southey, CJ Schroen, J Hopper, SC Morrison, GG Giles, EH Walters, SC Dharmage, MC Matheson

Journal article  |  2013  |  International Archives of Allergy and Immunology

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COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

Melissa C Southey, Daniel J Park, Tu Nguyen-Dumont, Ian Campbell, Ella Thompson, Alison H Trainer, Georgia Chenevix-Trench, Jacques Simard, Martine Dumont, Penny Soucy, Mads Thomassen, Lars Jonson, Inge S Pedersen, Thomas VO Hansen, Heli Nevanlinna, Sofia Khan, Olga Sinilnikova, Sylvie Mazoyer, Fabienne Lesueur, Francesca Damiola, et al.

Journal article  |  2013  |  Breast Cancer Research

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Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Z Teo, DJ Park, E Provenzano, CA Chatfield, FA Odefrey, T Nguyen-Dumont, JG Dowty, J HOPPER, I Winship, D Goldgar, MC Southey

Journal article  |  2013  |  Breast Cancer Research

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PALB2 and breast cancer: ready for clinical translation!

Melissa C Southey, Zhi L Teo, Ingrid Winship

Journal article  |  2013  |  Appl Clin Genet

For almost two decades, breast cancer clinical genetics has operated in an environment where a heritable cause of breast cancer su..

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RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study

Florence Le Calvez-Kelm, Javier Oliver, Francesca Damiola, Nathalie Forey, Nivonirina Robinot, Geoffroy Durand, Catherine Voegele, Maxime P Vallee, Graham Byrnes, John L Hopper, Melissa C Southey, Irene L Andrulis, Esther M John, Sean V Tavtigian, Fabienne Lesueur

Journal article  |  2012  |  PLoS One

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A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Afshan Siddiq, Fergus J Couch, Gary K Chen, Sara Lindstrom, Diana Eccles, Robert C Millikan, Kyriaki Michailidou, Daniel O Stram, Lars Beckmann, Suhn Kyong Rhie, Christine B Ambrosone, Kristiina Aittomaki, Pilar Amiano, Carmel Apicella, Laura Baglietto, Elisa V Bandera, Matthias W Beckmann, Christine D Berg, Leslie Bernstein, Carl Blomqvist, et al.

Journal article  |  2012  |  Human Molecular Genetics

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CHEK2*1100delC Heterozygosity in Women With Breast Cancer Associated With Early Death, Breast Cancer-Specific Death, and Increased Risk of a Second Breast Cancer

Maren Weischer, Borge G Nordestgaard, Paul Pharoah, Manjeet K Bolla, Heli Nevanlinna, Laura J van't Veer, Montserrat Garcia-Closas, John L Hopper, Per Hall, Irene L Andrulis, Peter Devilee, Peter A Fasching, Hoda Anton-Culver, Diether Lambrechts, Maartje Hooning, Angela Cox, Graham G Giles, Barbara Burwinkel, Annika Lindblom, Fergus J Couch, et al.

Journal article  |  2012  |  Journal of Clinical Oncology

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Identification of fifteen novel germline variants in the BRCA1 3 ' UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

Brooke L Brewster, Francesca Rossiello, Juliet D French, Stacey L Edwards, Ming Wong, Ania Wronski, Phillip Whiley, Nic Waddell, Xiaowei Chen, Betsy Bove, John L Hopper, Esther M John, Irene Andrulis, Mary Daly, Sara Volorio, Loris Bernard, Bernard Peissel, Siranoush Manoukian, Monica Barile, Sara Pizzamiglio, et al.

Journal article  |  2012  |  Human Mutation

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Interleukin-6 Promoter Variants, Prostate Cancer Risk, and Survival

Elizabeth A Tindall, Gianluca Severi, Hoa N Hoang, Melissa C Southey, Dallas R English, John L Hopper, Graham G Giles, Vanessa M Hayes

Journal article  |  2012  |  The Prostate

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Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

Kristen N Stevens, Xianshu Wang, Zachary Fredericksen, Vernon S Pankratz, Mark H Greene, Irene L Andrulis, Mads Thomassen, Maria Caligo, Katherine L Nathanson, Anna Jakubowska, Ana Osorio, Ute Hamann, Andrew K Godwin, Dominique Stoppa-Lyonnet, Melissa Southey, Saundra S Buys, Christian F Singer, Thomas VO Hansen, Adalgeir Arason, Kenneth Offit, et al.

Journal article  |  2012  |  BREAST CANCER RESEARCH AND TREATMENT

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9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Helen Warren, Frank Dudbridge, Olivia Fletcher, Nick Orr, Nichola Johnson, John L Hopper, Carmel Apicella, Melissa C Southey, Maryam Mahmoodi, Marjanka K Schmidt, Annegien Broeks, Sten Cornelissen, Linda M Braaf, Kenneth R Muir, Artitaya Lophatananon, Arkom Chaiwerawattana, Surapon Wiangnon, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, et al.

Journal article  |  2012  |  CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

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The role of genetic breast cancer susceptibility variants as prognostic factors

Peter A Fasching, Paul DP Pharoah, Angela Cox, Heli Nevanlinna, Stig E Bojesen, Thomas Karn, Annegien Broeks, Flora E van Leeuwen, Laura J van 't Veer, Renate Udo, Alison M Dunning, Dario Greco, Kristiina Aittomaki, Carl Blomqvist, Mitul Shah, Borge G Nordestgaard, Henrik Flyger, John L Hopper, Melissa C Southey, Carmel Apicella, et al.

Journal article  |  2012  |  Human Molecular Genetics

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PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2

GC Wishart, CD Bajdik, E Dicks, E Provenzano, MK Schmidt, M Sherman, DC Greenberg, AR Green, KA Gelmon, V-M Kosma, JE Olson, MW Beckmann, R Winqvist, SS Cross, G Severi, D Huntsman, K Pylkas, I Ellis, TO Nielsen, G Giles, et al.

Journal article  |  2012  |  British Journal of Cancer

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Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Rebecca Hein, Melanie Maranian, John L Hopper, Miroslaw K Kapuscinski, Melissa C Southey, Daniel J Park, Marjanka K Schmidt, Annegien Broeks, Frans BL Hogervorst, H Bas Bueno-de-Mesquit, Kenneth R Muir, Artitaya Lophatananon, Suthee Rattanamongkongul, Puttisak Puttawibul, Peter A Fasching, Alexander Hein, Arif B Ekici, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, et al.

Journal article  |  2012  |  PLOS ONE

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Risk factors for uncommon histologic subtypes of breast cancer using centralized pathology review in the Breast Cancer Family Registry

Meghan E Work, Irene L Andrulis, Esther M John, John L Hopper, Yuyan Liao, Fang Fang Zhang, Julia A Knight, Dee W West, Roger L Milne, Graham G Giles, Teri A Longacre, Frances O'Malley, Anna Marie Mulligan, Melissa C Southey, Hanina Hibshoosh, Mary Beth Terry

Journal article  |  2012  |  BREAST CANCER RESEARCH AND TREATMENT

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High and low mammographic density human breast tissues maintain histological differential in murine tissue engineering chambers

GL Chew, D Huang, SJ Lin, C Huo, T Blick, MA Henderson, P Hill, J Cawson, WA Morrison, IG Campbell, JL Hopper, MC Southey, I Haviv, EW Thompson

Journal article  |  2012  |  BREAST CANCER RESEARCH AND TREATMENT

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A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

Yuan C Ding, Lesley McGuffog, Sue Healey, Eitan Friedman, Yael Laitman, undefined Shani-Paluch-Shimon, Bella Kaufman, Annelie Liljegren, Annika Lindblom, Hakan Olsson, Ulf Kristoffersson, Marie Stenmark-Askmalm, Beatrice Melin, Susan M Domchek, Katherine L Nathanson, Timothy R Rebbeck, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, et al.

Journal article  |  2012  |  CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

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Body size and risk for colorectal cancers showing BRAF mutations or microsatellite instability: a pooled analysis

Laura AE Hughes, Elizabeth J Williamson, Manon van Engeland, Mark A Jenkins, Graham G Giles, John L Hopper, Melissa C Southey, Joanne P Young, Daniel D Buchanan, Michael D Walsh, Piet A van den Brandt, R Alexandra Goldbohm, Matty P Weijenberg, Dallas R English

Journal article  |  2012  |  International Journal of Epidemiology

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Identification of a novel percent mammographic density locus at 12q24

Kristen N Stevens, Sara Lindstrom, Christopher G Scott, Deborah Thompson, Thomas A Sellers, Xianshu Wang, Alice Wang, Elizabeth Atkinson, David N Rider, Jeanette E Eckel-Passow, Jajini S Varghese, Tina Audley, Judith Brown, Jean Leyland, Robert N Luben, Ruth ML Warren, Ruth JF Loos, Nicholas J Wareham, Jingmei Li, Per Hall, et al.

Journal article  |  2012  |  Human Molecular Genetics

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11q13 is a susceptibility locus for hormone receptor positive breast cancer

Diether Lambrechts, Therese Truong, Christina Justenhoven, Manjeet K Humphreys, Jean Wang, John L Hopper, Gillian S Dite, Carmel Apicella, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Sten Cornelissen, Richard van Hien, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Roger L Milne, M Pilar Zamora, Jose Ignacio Arias Perez, et al.

Journal article  |  2012  |  HUMAN MUTATION

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Common Breast Cancer Susceptibility Variants in LSP1 and RAD51L1 Are Associated with Mammographic Density Measures that Predict Breast Cancer Risk

Celine M Vachon, Christopher G Scott, Peter A Fasching, Per Hall, Rulla M Tamimi, Jingmei Li, Jennifer Stone, Carmel Apicella, Fabrice Odefrey, Gretchen L Gierach, Sebastian M Jud, Katharina Heusinger, Matthias W Beckmann, Marina Pollan, Pablo Fernandez-Navarro, Anna Gonzalez-Neira, Javier Benitez, Carla H van Gils, Mariette Lokate, N Charlotte Onland-Moret, et al.

Journal article  |  2012  |  Cancer Epidemiology, Biomarkers & Prevention

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Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Tomas Kirchhoff, Mia M Gaudet, Antonis C Antoniou, Lesley McGuffog, Manjeet K Humphreys, Alison M Dunning, Stig E Bojesen, Borge G Nordestgaard, Henrik Flyger, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, Thilo Dork, Peter Schuermann, Johann H Karstens, Peter Hillemanns, Fergus J Couch, Janet Olson, Celine Vachon, et al.

Journal article  |  2012  |  PLoS One

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Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

DJ Park, F Lesueur, T Nguyen-Dumont, M Pertesi, F Odefrey, F Hammet, SL Neuhausen, EM John, IL Andrulis, MB Terry, M Daly, S Buys, F Le Calvez-Kelm, A Lonie, BJ Pope, H Tsimiklis, C Voegele, FM Hilbers, N Hoogerbrugge, A Barroso, et al.

Journal article  |  2012  |  American Journal of Human Genetics

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Ovarian Cancer Susceptibility Alleles and Risk of Ovarian Cancer in BRCA1 and BRCA2 Mutation Carriers

Susan J Ramus, Antonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Olga M Sinilnikova, Sue Healey, Daniel Barrowdale, Andrew Lee, Mads Thomassen, Anne-Marie Gerdes, Torben A Kruse, Uffe Birk Jensen, Anne-Bine Skytte, Maria A Caligo, Annelie Liljegren, Annika Lindblom, Hakan Olsson, et al.

Journal article  |  2012  |  Human Mutation

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19p13.1 Is a Triple-Negative-Specific Breast Cancer Susceptibility Locus

Kristen N Stevens, Zachary Fredericksen, Celine M Vachon, Xianshu Wang, Sara Margolin, Annika Lindblom, Heli Nevanlinna, Dario Greco, Kristiina Aittomaki, Carl Blomqvist, Jenny Chang-Claude, Alina Vrieling, Dieter Flesch-Janys, Hans-Peter Sinn, Shan Wang-Gohrke, Stefan Nickels, Hiltrud Brauch, Yon-Dschun Ko, Hans-Peter Fischer, Rita K Schmutzler, et al.

Journal article  |  2012  |  Cancer Research

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Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Fergus J Couch, Mia M Gaudet, Antonis C Antoniou, Susan J Ramus, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Xianshu Wang, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Sue Healey, Olga M Sinilnikova, Irene L Andrulis, Hilmi Ozcelik, Anna Marie Mulligan, Mads Thomassen, Anne-Marie Gerdes, et al.

Journal article  |  2012  |  Cancer Epidemiology, Biomarkers & Prevention

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Colorectal and Other Cancer Risks for Carriers and Noncarriers From Families With a DNA Mismatch Repair Gene Mutation: A Prospective Cohort Study

Aung Ko Win, Joanne P Young, Noralane M Lindor, Katherine M Tucker, Dennis J Ahnen, Graeme P Young, Daniel D Buchanan, Mark Clendenning, Graham G Giles, Ingrid Winship, Finlay A Macrae, Jack Goldblatt, Melissa C Southey, Julie Arnold, Stephen N Thibodeau, Shanaka R Gunawardena, Bharati Bapat, John A Baron, Graham Casey, Steven Gallinger, et al.

Journal article  |  2012  |  JOURNAL OF CLINICAL ONCOLOGY

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Mammographic Breast Density and Breast Cancer: Evidence of a Shared Genetic Basis

Jajini S Varghese, Deborah J Thompson, Kyriaki Michailidou, Sara Lindstroem, Clare Turnbull, Judith Brown, Jean Leyland, Ruth ML Warren, Robert N Luben, Ruth J Loos, Nicholas J Wareham, Johanna Rommens, Andrew D Paterson, Lisa J Martin, Celine M Vachon, Christopher G Scott, Elizabeth J Atkinson, Fergus J Couch, Carmel Apicella, Melissa C Southey, et al.

Journal article  |  2012  |  Cancer Research

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Genome-wide association analysis identifies three new breast cancer susceptibility loci

Maya Ghoussaini, Olivia Fletcher, Kyriaki Michailidou, Clare Turnbull, Marjanka K Schmidt, Ed Dicks, Joe Dennis, Qin Wang, Manjeet K Humphreys, Craig Luccarini, Caroline Baynes, Don Conroy, Melanie Maranian, Shahana Ahmed, Kristy Driver, Nichola Johnson, Nicholas Orr, Isabel dos Santos Silva, Quinten Waisfisz, Hanne Meijers-Heijboer, et al.

Journal article  |  2012  |  Nature Genetics

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Using tumour pathology to identify people at high genetic risk of breast and colorectal cancers

JL Hopper, MA Jenkins, JG Dowty, GS Dite, C Apicella, L Keogh, AK Win, JP Young, D Buchanan, MD Walsh, C Rosty, L Baglietto, G Severi, KA Phillips, EM Wong, A Dobrovic, P Waring, I Winship, SJ Ramus, GG Giles, et al.

Journal article  |  2012  |  Pathology

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Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Antonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Andrew Lee, Daniel Barrowdale, Sue Healey, Olga M Sinilnikova, Maria A Caligo, Niklas Loman, Katja Harbst, Annika Lindblom, Brita Arver, Richard Rosenquist, Per Karlsson, Kate Nathanson, Susan Domchek, Tim Rebbeck, et al.

Journal article  |  2012  |  Breast Cancer Research

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The postmenopausal hormone replacement therapy-related breast cancer risk is decreased in women carrying the CYP2C19*17 variant

Christina Justenhoven, Ofure Obazee, Stefan Winter, Fergus J Couch, Janet E Olson, Per Hall, Ulf Hannelius, Jingmei Li, Keith Humphreys, Gianluca Severi, Graham Giles, Melissa Southey, Laura Baglietto, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Ute Hamann, Christian Baisch, Volker Harth, Sylvia Rabstein, et al.

Journal article  |  2012  |  Breast Cancer Research and Treatment

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Breast Cancer Prognosis in BRCA1 and BRCA2 Mutation Carriers: An International Prospective Breast Cancer Family Registry Population-Based Cohort Study

Pamela J Goodwin, Kelly-Anne Phillips, Dee W West, Marguerite Ennis, John L Hopper, Esther M John, Frances P O'Malley, Roger L Milne, Irene L Andrulis, Michael L Friedlander, Melissa C Southey, Carmel Apicella, Graham G Giles, Teri A Longacre

Journal article  |  2012  |  Journal of Clinical Oncology

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Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Nasim Mavaddat, Daniel Barrowdale, Irene L Andrulis, Susan M Domchek, Diana Eccles, Heli Nevanlinna, Susan J Ramus, Amanda Spurdle, Mark Robson, Mark Sherman, Anna Marie Mulligan, Fergus J Couch, Christoph Engel, Lesley McGuffog, Sue Healey, Olga M Sinilnikova, Melissa C Southey, Mary Beth Terry, David Goldgar, Frances O'Malley, et al.

Journal article  |  2012  |  Cancer Epidemiology, Biomarkers & Prevention

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Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry

Gillian S Dite, Enes Makalic, Daniel F Schmidt, Graham G Giles, John L Hopper, Melissa C Southey

Journal article  |  2012  |  Breast Cancer Research

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Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

KN Stevens, M Garcia-Closas, Z Fredericksen, M Kosel, VS Pankratz, JL Hopper, GS Dite, C Apicella, MC Southey, MK Schmidt, A Broeks, LJ Van 't Veer, RAEM Tollenaar, PA Fasching, MW Beckmann, A Hein, AB Ekici, N Johnson, J Peto, I dos Santos Silva, et al.

Journal article  |  2011  |  British Journal of Cancer

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FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer

Daniel J Park, Fabrice A Odefrey, Fleur Hammet, Graham G Giles, Laura Baglietto, John L Hopper, Daniel F Schmidt, Enes Makalic, Olga M Sinilnikova, David E Goldgar, Melissa C Southey

Journal article  |  2011  |  Breast Cancer Research and Treatment

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A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

Christopher A Haiman, Gary K Chen, Celine M Vachon, Federico Canzian, Alison Dunning, Robert C Millikan, Xianshu Wang, Foluso Ademuyiwa, Shahana Ahmed, Christine B Ambrosone, Laura Baglietto, Rosemary Balleine, Elisa V Bandera, Matthias W Beckmann, Christine D Berg, Leslie Bernstein, Carl Blomqvist, William J Blot, Hiltrud Brauch, Julie E Buring, et al.

Journal article  |  2011  |  Nature Genetics

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Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

Jonine D Figueroa, Montserrat Garcia-Closas, Manjeet Humphreys, Radka Platte, John L Hopper, Melissa C Southey, Carmel Apicella, Fleur Hammet, Marjanka K Schmidt, Annegien Broeks, Rob AEM Tollenaar, Laura J Van't Veer, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Reiner Strick, Julian Peto, Isabel dos Santos Silva, Olivia Fletcher, Nichola Johnson, et al.

Journal article  |  2011  |  Human Molecular Genetics

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Breast Cancer Risk for Noncarriers of Family-Specific BRCA1 and BRCA2 Mutations: Findings From the Breast Cancer Family Registry

Allison W Kurian, Gail D Gong, Esther M John, David A Johnston, Anna Felberg, Dee W West, Alexander Miron, Irene L Andrulis, John L Hopper, Julia A Knight, Hilmi Ozcelik, Gillian S Dite, Carmel Apicella, Melissa C Southey, Alice S Whittemore

Journal article  |  2011  |  Journal of Clinical Oncology

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Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

David G Cox, Jacques Simard, Daniel Sinnett, Yosr Hamdi, Penny Soucy, Manon Ouimet, Laure Barjhoux, Carole Verny-Pierre, Lesley McGuffog, Sue Healey, Csilla Szabo, Mark H Greene, Phuong L Mai, Irene L Andrulis, Mads Thomassen, Anne-Marie Gerdes, Maria A Caligo, Eitan Friedman, Yael Laitman, Bella Kaufman, et al.

Journal article  |  2011  |  Human Molecular Genetics

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Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer

Aung Ko Win, Sean P Cleary, James G Dowty, John A Baron, Joanne P Young, Daniel D Buchanan, Melissa C Southey, Terrilea Burnett, Patrick S Parfrey, Roger C Green, Loic Le Marchand, Polly A Newcomb, Robert W Haile, Noralane M Lindor, John L Hopper, Steven Gallinger, Mark A Jenkins

Journal article  |  2011  |  INTERNATIONAL JOURNAL OF CANCER

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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Kate M Im, Tomas Kirchhoff, Xianshu Wang, Todd Green, Clement Y Chow, Joseph Vijai, Joshua Korn, Mia M Gaudet, Zachary Fredericksen, V Shane Pankratz, Candace Guiducci, Andrew Crenshaw, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M Sinilnikova, Phuong L Mai, Mark H Greene, Marion Piedmonte, et al.

Journal article  |  2011  |  Human Genetics

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Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer

Christopher A Maxwell, Javier Benitez, Laia Gomez-Baldo, Ana Osorio, Nuria Bonifaci, Ricardo Fernandez-Ramires, Sylvain V Costes, Elisabet Guino, Helen Chen, Gareth JR Evans, Pooja Mohan, Isabel Catala, Anna Petit, Helena Aguilar, Alberto Villanueva, Alvaro Aytes, Jordi Serra-Musach, Gad Rennert, Flavio Lejbkowicz, Paolo Peterlongo, et al.

Journal article  |  2011  |  PLoS Biology

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Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor-Positive, Lower Grade Breast Cancer

Roger L Milne, Ellen L Goode, Montserrat Garca-Closas, Fergus J Couch, Gianluca Severi, Rebecca Hein, Zachary Fredericksen, Nuria Malats, M Pilar Zamora, Jose Ignacio Arias Perez, Javier Benitez, Thilo Doerk, Peter Schuermann, Johann H Karstens, Peter Hillemanns, Angela Cox, Ian W Brock, Graeme Elliot, Simon S Cross, Sheila Seal, et al.

Journal article  |  2011  |  Cancer Epidemiology, Biomarkers & Prevention

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7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

Roger L Milne, Justo Lorenzo-Bermejo, Barbara Burwinkel, Nuria Malats, Jose Ignacio Arias, M Pilar Zamora, Javier Benitez, Manjeet K Humphreys, Montserrat Garcia-Closas, Stephen J Chanock, Jolanta Lissowska, Mark E Sherman, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist, Hoda Anton-Culver, et al.

Journal article  |  2011  |  Journal of Medical Genetics

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The potential value of sibling controls compared with population controls for association studies of lifestyle-related risk factors: an example from the Breast Cancer Family Registry

Roger L Milne, Esther M John, Julia A Knight, Gillian S Dite, Melissa C Southey, Graham G Giles, Carmel Apicella, Dee W West, Irene L Andrulis, Alice S Whittemore, John L Hopper

Journal article  |  2011  |  International Journal of Epidemiology

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The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain

Paolo Peterlongo, Laura Caleca, Elisa Cattaneo, Fernando Ravagnani, Tiziana Bianchi, Laura Galastri, Loris Bernard, Filomena Ficarazzi, Valentina Dall'olio, Frederik Marme, Anne Langheinz, Christoph Sohn, Barbara Burwinkel, Graham G Giles, Laura Baglietto, Gianluca Severi, Fabrice A Odefrey, Melissa C Southey, Ana Osorio, Fernando Fernandez, et al.

Journal article  |  2011  |  Journal of Medical Genetics

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Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

Annegien Broeks, Marjanka K Schmidt, Mark E Sherman, Fergus J Couch, John L Hopper, Gillian S Dite, Carmel Apicella, Letitia D Smith, Fleur Hammet, Melissa C Southey, Laura J Van 't Veer, Renate de Groot, Vincent THBM Smit, Peter A Fasching, Matthias W Beckmann, Sebastian Jud, Arif B Ekici, Arndt Hartmann, Alexander Hein, Ruediger Schulz-Wendtland, et al.

Journal article  |  2011  |  Human Molecular Genetics

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Design Considerations for Massively Parallel Sequencing Studies of Complex Human Disease

Bing-Jian Feng, Sean V Tavtigian, Melissa C Southey, David E Goldgar

Journal article  |  2011  |  PLoS One

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Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study

Zsofia Kote-Jarai, Ali Amin Al Olama, Graham G Giles, Gianluca Severi, Johanna Schleutker, Maren Weischer, Daniele Campa, Elio Riboli, Tim Key, Henrik Gronberg, David J Hunter, Peter Kraft, Michael J Thun, Sue Ingles, Stephen Chanock, Demetrius Albanes, Richard B Hayes, David E Neal, Freddie C Hamdy, Jenny L Donovan, et al.

Journal article  |  2011  |  Nature Genetics

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A role for XRCC2 gene polymorphisms in breast cancer risk and survival

Wei-Yu Lin, Nicola J Camp, Lisa A Cannon-Albright, Kristina Allen-Brady, Sabapathy Balasubramanian, Malcolm WR Reed, John L Hopper, Carmel Apicella, Graham G Giles, Melissa C Southey, Roger L Milne, Jose I Arias-Perez, Primitiva Menendez-Rodriguez, Javier Benitez, Magdalena Grundmann, Natalia Dubrowinskaja, Tjoung-Won Park-Simon, Thilo Doerk, Montserrat Garcia-Closas, Jonine Figueroa, et al.

Journal article  |  2011  |  Journal of Medical Genetics

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Image-guided sampling reveals increased stroma and lower glandular complexity in mammographically dense breast tissue

Suling J Lin, Jennifer Cawson, Prue Hill, Izhak Haviv, Mark Jenkins, John L Hopper, Melissa C Southey, Ian G Campbell, Erik W Thompson

Journal article  |  2011  |  Breast Cancer Research and Treatment

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Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery

Susan Parry, Aung Ko Win, Bryan Parry, Finlay A Macrae, Lyle C Gurrin, James M Church, John A Baron, Graham G Giles, Barbara A Leggett, Ingrid Winship, Lara Lipton, Graeme P Young, Joanne P Young, Caroline J Lodge, Melissa C Southey, Polly A Newcomb, Loic Le Marchand, Robert W Haile, Noralane M Lindor, Steven Gallinger, et al.

Journal article  |  2011  |  GUT

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Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript

Z Kote-Jarai, A Amin Al Olama, D Leongamornlert, M Tymrakiewicz, E Saunders, M Guy, GG Giles, G Severi, M Southey, JL Hopper, KC Sit, JM Harris, J Batra, AB Spurdle, JA Clements, F Hamdy, D Neal, J Donovan, K Muir, PDP Pharoah, et al.

Journal article  |  2011  |  Human Genetics

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Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2

Tu Nguyen-Dumont, Lars P Jordheim, Jocelyne Michelon, Nathalie Forey, Sandrine McKay-Chopin, Olga Sinilnikova, Florence Le Calvez-Kelm, Melissa C Southey, Sean V Tavtigian, Fabienne Lesueur

Journal article  |  2011  |  BMC Medical Genomics

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Body Mass Index in Early Adulthood and Endometrial Cancer Risk for Mismatch Repair Gene Mutation Carriers

Aung Ko Win, James G Dowty, Yoland C Antill, Dallas R English, John A Baron, Joanne P Young, Graham G Giles, Melissa C Southey, Ingrid Winship, Lara Lipton, Susan Parry, Stephen N Thibodeau, Robert W Haile, Steven Gallinger, Loic Le Marchand, Noralane M Lindor, Polly A Newcomb, John L Hopper, Mark A Jenkins

Journal article  |  2011  |  OBSTETRICS AND GYNECOLOGY

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Morphological predictors of BRCA1 germline mutations in young women with breast cancer

MC Southey, SJ Ramus, JG Dowty, LD Smith, AA Tesoriero, EEM Wong, GS Dite, MA Jenkins, GB Byrnes, I Winship, K-A Phillips, GG Giles, JL Hopper

Journal article  |  2011  |  British Journal of Cancer

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Common variants in ZNF365 are associated with both mammographic density and breast cancer risk

Sara Lindstroem, Celine M Vachon, Jingmei Li, Jajini Varghese, Deborah Thompson, Ruth Warren, Judith Brown, Jean Leyland, Tina Audley, Nicholas J Wareham, Ruth JF Loos, Andrew D Paterson, Johanna Rommens, Darryl Waggott, Lisa J Martin, Christopher G Scott, V Shane Pankratz, Susan E Hankinson, Aditi Hazra, David J Hunter, et al.

Journal article  |  2011  |  Nature Genetics

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Dependence of Colorectal Cancer Risk on the Parent-of-Origin of Mutations in DNA Mismatch Repair Genes

Christine M van Vliet, James G Dowty, Jane L van Vliet, Letitia Smith, Leeanne J Mead, Finlay A Macrae, D James B St John, Graham G Giles, Melissa C Southey, Mark A Jenkins, Gary M Velan, John L Hopper

Journal article  |  2011  |  Human Mutation

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Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies

Xiaohong R Yang, Jenny Chang-Claude, Ellen L Goode, Fergus J Couch, Heli Nevanlinna, Roger L Milne, Mia Gaudet, Marjanka K Schmidt, Annegien Broeks, Angela Cox, Peter A Fasching, Rebecca Hein, Amanda B Spurdle, Fiona Blows, Kristy Driver, Dieter Flesch-Janys, Judith Heinz, Peter Sinn, Alina Vrieling, Tuomas Heikkinen, et al.

Journal article  |  2011  |  Journal of the National Cancer Institute

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Presence of MMTV-like env gene sequences in human breast cancer

DJ Park, M SOUTHEY, G GILES, J HOPPER

Journal article  |  2011  |  Breast Cancer Research and Treatment

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Response 'Presence of MMTV-like env gene sequences in human breast cancer'

Daniel J Park, Melissa C Southey, Graham G Giles, John L Hopper

Journal article  |  2011  |  Breast Cancer Research and Treatment

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Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers

Susan J Ramus, Christiana Kartsonaki, Simon A Gayther, Paul DP Pharoah, Olga M Sinilnikova, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Sue Healey, Fergus J Couch, Xianshu Wang, Zachary Fredericksen, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Gaia Roversi, Monica Barile, Alessandra Viel, Anna Allavena, et al.

Journal article  |  2011  |  Journal of the National Cancer Institute

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No evidence of MMTV-like env sequences in specimens from the Australian Breast Cancer Family Study

Daniel J Park, Melissa C Southey, Graham G Giles, John L Hopper

Journal article  |  2011  |  Breast Cancer Research and Treatment

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Constitutional Methylation of the BRCA1 Promoter Is Specifically Associated with BRCA1 Mutation-Associated Pathology in Early-Onset Breast Cancer

Ee Ming Wong, Melissa C Southey, Stephen B Fox, Melissa A Brown, James G Dowty, Mark A Jenkins, Graham G Giles, John L Hopper, Alexander Dobrovic

Journal article  |  2011  |  Cancer prevention research

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Precision Medicine: Dawn of Supercomputing in ‘omics Research

M Reumann, KE Holt, M Inouye, T Stinear, B Goudey, G Abraham, Q WANG, F Shi, A Kowalczyk, A Pearce, A Isaac, BJ Pope, H Butzkueven, J Wagner, S Moore, M Downton, PC Church, SJ Turner, J Field, M Southey, et al.

Conference Proceedings  |  2011  |  Proceedings of the 5th eResearch Australasia Conference

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Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry

Letitia D Smith, Andrea A Tesoriero, Ee M Wong, Susan J Ramus, Frances P O'Malley, Anna Marie Mulligan, Mary Beth Terry, Ruby T Senie, Regina M Santella, Esther M John, Irene L Andrulis, Hilmi Ozcelik, Mary B Daly, Andrew K Godwin, Saundra S Buys, Stephen Fox, David E Goldgar, Graham G Giles, John L Hopper, Melissa C Southey

Journal article  |  2011  |  Breast Cancer Research

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Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Anna Marie Mulligan, Fergus J Couch, Daniel Barrowdale, Susan M Domchek, Diana Eccles, Heli Nevanlinna, Susan J Ramus, Mark Robson, Mark Sherman, Amanda B Spurdle, Barbara Wappenschmidt, Andrew Lee, Lesley McGuffog, Sue Healey, Olga M Sinilnikova, Ramunas Janavicius, Thomas VO Hansen, Finn C Nielsen, Bent Ejlertsen, Ana Osorio, et al.

Journal article  |  2011  |  BREAST CANCER RESEARCH

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Exploring the link between MORF4L1 and risk of breast cancer

Griselda Martrat, Christopher A Maxwell, Emiko Tominaga, Montserrat Porta-de-la-Riva, Nuria Bonifaci, Laia Gomez-Baldo, Massimo Bogliolo, Conxi Lazaro, Ignacio Blanco, Joan Brunet, Helena Aguilar, Juana Fernandez-Rodriguez, Sheila Seal, Anthony Renwick, Nazneen Rahman, Julia Kuehl, Kornelia Neveling, Detlev Schindler, Maria J Ramirez, Maria Castella, et al.

Journal article  |  2011  |  Breast Cancer Research

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Rare variants in the ATM gene and risk of breast cancer

David E Goldgar, Sue Healey, James G Dowty, Leonard Da Silva, Xiaoqing Chen, Amanda B Spurdle, Mary Beth Terry, Mary J Daly, Saundra M Buys, Melissa C Southey, Irene Andrulis, Esther M John, Kum Kum Khanna, John L Hopper, Peter J Oefner, Sunil Lakhani, Georgia Chenevix-Trench

Journal article  |  2011  |  Breast Cancer Research

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Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

Florence Le Calvez-Kelm, Fabienne Lesueur, Francesca Damiola, Maxime Vallee, Catherine Voegele, Davit Babikyan, Geoffroy Durand, Nathalie Forey, Sandrine McKay-Chopin, Nivonirina Robinot, Tu Nguyen-Dumont, Alun Thomas, Graham B Byrnes, John L Hopper, Melissa C Southey, Irene L Andrulis, Esther M John, Sean V Tavtigian

Journal article  |  2011  |  Breast Cancer Research

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Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers

KA Schrader, S Masciari, N Boyd, C Salamanca, J Senz, DN Saunders, E Yorida, S Maines-Bandiera, P Kaurah, N Tung, ME Robson, PD Ryan, OI Olopade, SM Domchek, J Ford, C Isaacs, P Brown, J Balmana, AR Razzak, P Miron, et al.

Journal article  |  2011  |  Journal of Medical Genetics

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A genome-wide linkage study of mammographic density, a risk factor for breast cancer

Celia MT Greenwood, Andrew D Paterson, Linda Linton, Irene L Andrulis, Carmel Apicella, Apostolos Dimitromanolakis, Valentina Kriukov, Lisa J Martin, Ayesha Salleh, Elena Samiltchuk, Rashmi V Parekh, Melissa C Southey, Esther M John, John L Hopper, Norman F Boyd, Johanna M Rommens

Journal article  |  2011  |  Breast Cancer Research

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Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.

Journal article  |  2010  |  PLoS genetics

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Association Between Mammographic Breast Density and a Chromosome 7p Marker is Confounded by Allele Frequency Variation Across Populations

CMT Greenwood, AD Paterson, L Linton, IL Andrulis, C Apicella, A Dimitromanolakis, JL Hopper, EM John, V Kriukov, LJ Martin, R Parekh, A Salleh, E Samiltchuk, E Satariano, M Southey, JM Rommens, NF Boyd

Conference Proceedings  |  2010  |  GENETIC EPIDEMIOLOGY

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Comprehensive analysis of the cytokine-rich chromosome 5q31.1 region suggests a role for IL-4 gene variants in prostate cancer risk

EA Tindall, G Severi, HN Hoang, CS Ma, P Fernandez, MC Southey, DR English, JL Hopper, CF Heyns, SG Tangye, GG Giles, VM Hayes

Journal article  |  2010  |  CARCINOGENESIS

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A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

Antonis C Antoniou, Xianshu Wang, Zachary S Fredericksen, Lesley McGuffog, Robert Tarrell, Olga M Sinilnikova, Sue Healey, Jonathan Morrison, Christiana Kartsonaki, Timothy Lesnick, Maya Ghoussaini, Daniel Barrowdale, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Diana Eccles, D Gareth Evans, Ros Eeles, Louise Izatt, et al.

Journal article  |  2010  |  Nature Genetics

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Null findings with respect to MMTV-like env sequences in human breast cancer

Daniel J Park, Melissa C Southey, Graham G Giles, John L Hopper

Journal article  |  2010  |  Breast Cancer Research and Treatment

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Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Mia M Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M Korn, Candace Guiducci, Ayellet V Segre, Kate McGee, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Marion Gauthier-Villars, Hagay Sobol, Michel Longy, Marc Frenay, Frans BL Hogervorst, et al.

Journal article  |  2010  |  PLoS Genetics

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Increased cancer risks for relatives of very early-onset breast cancer cases with and without BRCA1 and BRCA2 mutations

GS Dite, AS Whittemore, JA Knight, EM John, RL Milne, IL Andrulis, MC Southey, MRE McCredie, GG Giles, A Miron, AI Phipps, DW West, JL Hopper

Journal article  |  2010  |  British Journal of Cancer

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Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age

Lidija Turkovic, Lyle C Gurrin, Melanie Bahlo, Gillian S Dite, Melissa C Southey, John L Hopper

Journal article  |  2010  |  BMC Cancer

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Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls

Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Nick Orr, Alan Ashworth, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist, Barbara Burwinkel, Claus R Bartram, Alfons Meindl, Rita K Schmutzler, Angela Cox, Ian Brock, Graeme Elliott, Malcolm WR Reed, Melissa C Southey, Letitia Smith, Amanda B Spurdle, et al.

Journal article  |  2010  |  Cancer Epidemiology, Biomarkers & Prevention

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Plasma concentration of Propionibacterium acnes antibodies and prostate cancer risk: results from an Australian population-based case-control study

G Severi, BA Shannon, HN Hoang, L Baglietto, DR English, JL Hopper, J Pedersen, MC Southey, R Sinclair, RJ Cohen, GG Giles

Journal article  |  2010  |  British Journal of Cancer

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Population-Based Estimate of the Contribution of TP53 Mutations to Subgroups of Early-Onset Breast Cancer: Australian Breast Cancer Family Study

Judy Mouchawar, Christopher Korch, Tim Byers, Todd M Pitts, Efang Li, Margaret RE McCredie, Graham G Giles, John L Hopper, Melissa C Southey

Journal article  |  2010  |  Cancer Research

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Rare, evolutionary unlikely missense substitutions in CHEK2 confer increased risk of breast cancer

F Le Calvez, F Lesueur, F Damiola, C Voegele, F Durocher, JL Hopper, MC Southey, IL Andrulis, EM John, SV Tavtigian

Conference Proceedings  |  2010  |  European Journal of Cancer Supplements

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Letter in response to "Identifying Lynch syndrome" by de la Chapelle et al.

Mark A Jenkins, James G Dowty, John L Hopper, Kathy Tucker, Melissa C Southey

Journal article  |  2010  |  International Journal of Cancer

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Association Between a Germline OCA2 Polymorphism at Chromosome 15q13.1 and Estrogen Receptor-Negative Breast Cancer Survival

Elizabeth M Azzato, Jonathan Tyrer, Peter A Fasching, Matthias W Beckmann, Arif B Ekici, Ruediger Schulz-Wendtland, Stig E Bojesen, Borge G Nordestgaard, Henrik Flyger, Roger L Milne, Jose Ignacio Arias, Primitiva Menendez, Javier Benitez, Jenny Chang-Claude, Rebecca Hein, Shan Wang-Gohrke, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist, et al.

Journal article  |  2010  |  Journal of the National Cancer Institute

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Are PALB2 mutations associated with increased risk of male breast cancer?

A Sauty de Chalon, Z Teo, DJ Park, FA Odefrey, JL Hopper, MC Southey

Journal article  |  2010  |  Breast Cancer Research and Treatment

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MOLECULAR CHARACTERIZATION OF BREAST CANCER IN YOUNG BRAZILIAN WOMEN

Leda Viegas de Carvalho, Emilio Marcelo Pereira, Lucien Frappart, Mathieu Boniol, Wanderley Marques Bernardo, Vicente Tarricone, Sean Tavtigian, Melissa Caroline Southey

Journal article  |  2010  |  Revista Associacao Medica Brasileira

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Sibship Analysis of Associations Between SNP Haplotypes and a Continuous Trait With Application to Mammographic Density

J Stone, LC Gurrin, VM Hayes, MC Southey, JL Hopper, GB Byrnes

Journal article  |  2010  |  Genetic Epidemiology

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Subtyping of Breast Cancer by Immunohistochemistry to Investigate a Relationship between Subtype and Short and Long Term Survival: A Collaborative Analysis of Data for 10,159 Cases from 12 Studies

Fiona M Blows, Kristy E Driver, Marjanka K Schmidt, Annegien Broeks, Flora E van Leeuwen, Jelle Wesseling, Maggie C Cheang, Karen Gelmon, Torsten O Nielsen, Carl Blomqvist, Paivi Heikkila, Tuomas Heikkinen, Heli Nevanlinna, Lars A Akslen, Louis R Begin, William D Foulkes, Fergus J Couch, Xianshu Wang, Vicky Cafourek, Janet E Olson, et al.

Journal article  |  2010  |  PLoS Medicine

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HFE C282Y Homozygotes Are at Increased Risk of Breast and Colorectal Cancer

Nicholas J Osborne, Lyle C Gurrin, Katrina J Allen, Clare C Constantine, Martin B Delatycki, Christine E McLaren, Dorota M Gertig, Gregory J Anderson, Melissa C Southey, John K Olynyk, Lawrie W Powell, John L Hopper, Graham G Giles, Dallas R English

Journal article  |  2010  |  Hepatology

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A BRCA1 promoter variant (rs11655505) and breast cancer risk

Paolo Verderio, Sara Pizzamiglio, Melissa C Southey, Amanda B Spurdle, John L Hopper, Xiaoqing Chen, Jonathan Beesley, Rita K Schmutzler, Christoph Engel, Barbara Burwinkel, Peter Bugert, Filomena Ficarazzi, Siranoush Manoukian, Monica Barile, Barbara Wappenschmidt, Georgia Chenevix-Trench, Paolo Radice, Paolo Peterlongo

Journal article  |  2010  |  Journal of Medical Genetics

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Family-based association study of IGF1 microsatellites and height, weight, and body mass index

Gordon Fehringer, Hilmi Ozcelik, Julia A Knight, Andrew D Paterson, Gillian S Dite, Graham G Giles, Melissa C Southey, Irene L Andrulis, John L Hopper, Norman F Boyd

Journal article  |  2010  |  Journal of Human Genetics

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Socio-economic status and survival from breast cancer for young, Australian, urban women

Katherine I Morley, Roger L Milne, Graham G Giles, Melissa C Southey, Carmel Apicella, John L Hopper, Kelly-Anne Phillips

Journal article  |  2010  |  Australian and New Zealand Journal of Public Health

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The role of SMAD4 in early-onset colorectal cancer

SG Royce, K Alsop, A Haydon, L Mead, LD Smith, AA Tesoriero, GG Giles, MA Jenkins, JL Hopper, MC Southey

Journal article  |  2010  |  Colorectal Disease

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The 4q27 locus and prostate cancer risk

Elizabeth A Tindall, Hoa N Hoang, Melissa C Southey, Dallas R English, John L Hopper, Graham G Giles, Gianluca Severi, Vanessa M Hayes

Journal article  |  2010  |  BMC Cancer

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Common Genetic Variants Associated with Breast Cancer and Mammographic Density Measures That Predict Disease

Fabrice Odefrey, Jennifer Stone, Lyle C Gurrin, Graham B Byrnes, Carmel Apicella, Gillian S Dite, Jennifer N Cawson, Graham G Giles, Susan A Treloar, Dallas R English, John L Hopper, Melissa C Southey

Journal article  |  2010  |  Cancer Research

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Null findings with respect to MMTV-like env sequences in human breast cancer

DJ Park, M SOUTHEY, G GILES, J HOPPER

Journal article  |  2010  |  Breast Cancer Research and Treatment

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A PALB2 mutation associated with high risk of breast cancer

Melissa C Southey, Zhi L Teo, James G Dowty, Fabrice A Odefrey, Daniel J Park, Marc Tischkowitz, Nelly Sabbaghian, Carmel Apicella, Graham B Byrnes, Ingrid Winship, Laura Baglietto, Graham G Giles, David E Goldgar, William D Foulkes, John L Hopper

Journal article  |  2010  |  Breast Cancer Research

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Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

Roger L Milne, Mia M Gaudet, Amanda B Spurdle, Peter A Fasching, Fergus J Couch, Javier Benitez, Jose Ignacio Arias Perez, M Pilar Zamora, Nuria Malats, Isabel dos Santos Silva, Lorna J Gibson, Olivia Fletcher, Nichola Johnson, Hoda Anton-Culver, Argyrios Ziogas, Jonine Figueroa, Louise Brinton, Mark E Sherman, Jolanta Lissowska, John L Hopper, et al.

Journal article  |  2010  |  Breast Cancer Research

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Prostate Cancer Segregation Analyses Using 4390 Families from UK and Australian Population-Based Studies

Robert J MacInnis, Antonis C Antoniou, Rosalind A Eeles, Gianluca Severi, Michelle Guy, Lesley McGuffog, Amanda L Hall, Lynne T O'Brien, Rosemary A Wilkinson, David P Dearnaley, Audrey T Ardern-Jones, Alan Horwich, Vincent S Khoo, Christopher C Parker, Robert A Huddart, Margaret R McCredie, Charmaine Smith, Melissa C Southey, Margaret P Staples, Dallas R English, et al.

Journal article  |  2010  |  Genetic Epidemiology

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Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development.

Jianjun Liu, Kartiki Vasant Desai, Yuqing Li, Shakeela Banu, Yew Kok Lee, Dianbo Qu, Tuomas Heikkinen, Kirsimari Aaltonen, Taru A Muranen, Tasneem Shabbir Kajiji, Carine Bonnard, Kristiina Aittomäki, Karl von Smitten, Carl Blomqvist, John L Hopper, Melissa C Southey, Hiltrud Brauch, undefined GENICA Consortium, Georgia Chenevix-Trench, Jonathan Beesley, et al.

Journal article  |  2009  |  The HUGO Journal

UNLABELLED: Multiple lines of evidence suggest regulatory variation to play an important role in phenotypic evolution and disease ..

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Familial Correlations in Postmenopausal Serum Concentrations of Sex Steroid Hormones and Other Mitogens: A Twins and Sisters Study

Jennifer Stone, Elizabeth Folkerd, Deborah Doody, Chris Schroen, Susan A Treloar, Graham G Giles, Malcolm C Pike, Dallas R English, Melissa C Southey, John L Hopper, Mitch Dowsett

Journal article  |  2009  |  Journal of Clinical Endocrinology & Metabolism

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Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Antonis C Antoniou, Olga M Sinilnikova, Lesley McGuffog, Sue Healey, Heli Nevanlinna, Tuomas Heikkinen, Jacques Simard, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Susan L Neuhausen, Yuan C Ding, Fergus J Couch, Xianshu Wang, Zachary Fredericksen, Paolo Peterlongo, Bernard Peissel, Bernardo Bonanni, Alessandra Viel, Loris Bernard, et al.

Journal article  |  2009  |  Human Molecular Genetics

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Family-based genetic association study of insulin-like growth factor I microsatellite markers and premenopausal breast cancer risk

Gordon Fehringer, Norman F Boyd, Julia A Knight, Andrew D Paterson, Gillian S Dite, Graham G Giles, Melissa C Southey, Irene L Andrulis, John L Hopper, Hilmi Ozcelik

Journal article  |  2009  |  Breast Cancer Research and Treatment

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Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer

Sean V Tavtigian, Peter J Oefner, Davit Babikyan, Anne Hartmann, Sue Healey, Florence Le Calvez-Kelm, Fabienne Lesueur, Graham B Byrnes, Shu-Chun Chuang, Nathalie Forey, Corinna Feuchtinger, Lydie Gioia, Janet Hall, Mia Hashibe, Barbara Herte, Sandrine McKay-Chopin, Alun Thomas, Maxime P Vallee, Catherine Voegele, Penelope M Webb, et al.

Journal article  |  2009  |  American Journal of Human Genetics

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A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

Clare C Constantine, Greg J Anderson, Chris D Vulpe, Christine E McLaren, Melanie Bahlo, Heng Lin Yeap, Dorota M Gertig, Nicholas J Osborne, Nadine A Bertalli, Kenneth B Beckman, Victoria Chen, Pavel Matak, Andrew T McKie, Martin B Delatycki, John K Olynyk, Dallas R English, Melissa C Southey, Graham G Giles, John L Hopper, Katrina J Allen, et al.

Journal article  |  2009  |  British Journal of Haematology

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Multiple loci on 8q24 associated with prostate cancer susceptibility

Ali Amin Al Olama, Zsofia Kote-Jarai, Graham G Giles, Michelle Guy, Jonathan Morrison, Gianluca Severi, Daniel A Leongamornlert, Malgorzata Tymrakiewicz, Sameer Jhavar, Ed Saunders, John L Hopper, Melissa C Southey, Kenneth R Muir, Dallas R English, David P Dearnaley, Audrey T Ardern-Jones, Amanda L Hall, Lynne T O'Brien, Rosemary A Wilkinson, Emma Sawyer, et al.

Journal article  |  2009  |  Nature Genetics

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Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

Rosalind A Eeles, Zsofia Kote-Jarai, Ali Amin Al Olama, Graham G Giles, Michelle Guy, Gianluca Severi, Kenneth Muir, John L Hopper, Brian E Henderson, Christopher A Haiman, Johanna Schleutker, Freddie C Hamdy, David E Neal, Jenny L Donovan, Janet L Stanford, Elaine A Ostrander, Sue A Ingles, Esther M John, Stephen N Thibodeau, Daniel Schaid, et al.

Journal article  |  2009  |  Nature Genetics

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Is uptake of genetic testing for colorectal cancer influenced by knowledge of insurance implications?

Louise A Keogh, Christine M van Vliet, David M Studdert, Judith A Maskiell, Finlay A Macrae, D James St John, Clara L Gaff, Mary Anne Young, Melissa C Southey, Graham G Giles, Doreen A Rosenthal, John L Hopper, Mark A Jenkins

Journal article  |  2009  |  Medical Journal of Australia

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Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry

Ellen T Chang, Roger L Milne, Kelly-Anne Phillips, Jane C Figueiredo, Meera Sangaramoorthy, Theresa HM Keegan, Irene L Andrulis, John L Hopper, Pamela J Goodwin, Frances P O'Malley, Nayana Weerasooriya, Carmel Apicella, Melissa C Southey, Michael L Friedlander, Graham G Giles, Alice S Whittemore, Dee W West, Esther M John

Journal article  |  2009  |  Breast Cancer Research and Treatment

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No evidence that GATA3 rs570613 SNP modifies breast cancer risk

Sharon E Johnatty, Fergus J Couch, Zachary Fredericksen, Robert Tarrell, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Daphne Gschwantler-Kaulich, Christian F Singer, Christine Fuerhauser, Anneliese Fink-Retter, Susan M Domchek, Katherine L Nathanson, Vernon S Pankratz, Noralane M Lindor, Andrew K Godwin, Maria A Caligo, John Hopper, Melissa C Southey, Graham G Giles, et al.

Journal article  |  2009  |  Breast Cancer Research and Treatment

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A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

Honglin Song, Susan J Ramus, Jonathan Tyrer, Kelly L Bolton, Aleksandra Gentry-Maharaj, Eva Wozniak, Hoda Anton-Culver, Jenny Chang-Claude, Daniel W Cramer, Richard DiCioccio, Thilo Doerk, Ellen L Goode, Marc T Goodman, Joellen M Schildkraut, Thomas Sellers, Laura Baglietto, Matthias W Beckmann, Jonathan Beesley, Jan Blaakaer, Michael E Carney, et al.

Journal article  |  2009  |  Nature Genetics

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Risk of Estrogen Receptor-Positive and -Negative Breast Cancer and Single-Nucleotide Polymorphism 2q35-rs13387042

Roger L Milne, Javier Benitez, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomaki, Carl Blomqvist, Jose Ignacio Arias, M Pilar Zamora, Barbara Burwinkel, Claus R Bartram, Alfons Meindl, Rita K Schmutzler, Angela Cox, Ian Brock, Graeme Elliott, Malcolm WR Reed, Melissa C Southey, Letitia Smith, Amanda B Spurdle, John L Hopper, et al.

Journal article  |  2009  |  Journal of the National Cancer Institute

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BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research

Susan L Neuhausen, Hilmi Ozcelik, Melissa C Southey, Esther M John, Andrew K Godwin, Wendy Chung, Jeniffer Iriondo-Perez, Alexander Miron, Regina M Santella, Alice Whittemore, Irene L Andrulis, Saundra S Buys, Mary B Daly, John L Hopper, Daniela Seminara, Ruby T Senie, Mary Beth Terry

Journal article  |  2009  |  Breast Cancer Research and Treatment