Paul James

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Haoyu Zhang, Thomas U Ahearn, Julie Lecarpentier, Daniel Barnes, Jonathan Beesley, Guanghao Qi, Xia Jiang, Tracy A O'Mara, Ni Zhao, Manjeet K Bolla, Alison M Dunning, Joe Dennis, Qin Wang, Zumuruda Abu Ful, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Banu K Arun, et al.

Journal article  |  2020  |  Nature Genetics

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, w..

Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics

B Meiser, R Kaur, J Kirk, A Morrow, M Peate, WKT Wong, E McPike, E Cops, C Dowson, R Austin, M Fine, L Thrupp, R Ward, F Macrae, JE Hiller, AH Trainer, G Mitchell

Journal article  |  2020  |  Familial Cancer

INTRODUCTION: This nationwide study assessed the impact of Lynch syndrome-related risk management guidelines on clinicians' recomm..

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

Deepak N Subramanian, Magnus Zethoven, Simone McInerny, James A Morgan, Simone M Rowley, Jue Er Amanda Lee, Na Li, Kylie L Gorringe, Paul A James, Ian G Campbell

Journal article  |  2020  |  Nature Communications

High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, approximately half of which cannot be explaine..

Familial Aortopathies - State of the Art Review

Dominica Zentner, Paul James, Paul Bannon, Richmond Jeremy

Journal article  |  2020  |  Heart, Lung and Circulation

Aortopathies are conditions that result in aortic dilatation, aneurysm formation and dissection. Familial aortopathies (perhaps be..

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Helian Feng, Alexander Gusev, Bogdan Pasaniuc, Lang Wu, Jirong Long, Zomoroda Abu-full, Kristiina Aittomaki, Irene L Andrulis, Hoda Anton-Culver, Antonis C Antoniou, Adalgeir Arason, Volker Arndt, Kristan J Aronson, Banu K Arun, Ella Asseryanis, Paul L Auer, Jacopo Azzollini, Judith Balmana, Rosa B Barkardottir, Daniel R Barnes, et al.

Journal article  |  2020  |  Genetic Epidemiology

Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expressio..

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..

Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

Tatiane Yanes, Mary-Anne Young, Bettina Meiser, Paul A James

Journal article  |  2020  |  Breast Cancer Research

Population Genomic Screening of All Young Adults in a Health-Care System: A Cost-Effectiveness Analysis

L Zhang, Y Bao, M Riaz, J Tiller, D Liew, X Zhuang, DJ Amor, A Huq, L Petelin, M Nelson, PA James, I Winship, JJ McNeil, P Lacaze

Journal article  |  2020  |  Obstetrical & Gynecological Survey

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...

Cardiac arrest and sudden cardiac death registries: a systematic review of global coverage

Elizabeth Davida Paratz, Luke Rowsell, Dominica Zentner, Sarah Parsons, Natalie Morgan, Tina Thompson, Paul James, Andreas Pflaumer, Christopher Semsarian, Karen Smith, Dion Stub, Andre La Gerche

Journal article  |  2020  |  Open Heart

Background: Sudden cardiac death (SCD) is a major global health problem, accounting for up to 20% of deaths in Western societies. ..

Cost-effectiveness of long-term clinical management of BRCA pathogenic variant carriers

Lara Petelin, Lucinda Hossack, Mary Shanahan, Gillian Mitchell, Danny Liew, Paul A James, Alison H Trainer

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: Women who inherit a BRCA1 or BRCA2 pathogenic variant are at high risk of developing breast and ovarian cancer. Evidence ..

The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.

Mark Pinese, Paul Lacaze, Emma M Rath, Andrew Stone, Marie-Jo Brion, Adam Ameur, Sini Nagpal, Clare Puttick, Shane Husson, Dmitry Degrave, Tina Navin Cristina, Vivian FS Kahl, Aaron L Statham, Robyn L Woods, John J McNeil, Moeen Riaz, Margo Barr, Mark R Nelson, Christopher M Reid, Anne M Murray, et al.

Journal article  |  2020  |  Nature Communications

Population health research is increasingly focused on the genetic determinants of healthy ageing, but there is no public resource ..

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

Jay Ramchand, Mathew Wallis, Ivan Macciocca, Elly Lynch, Omar Farouque, Melissa Martyn, Dean Phelan, Belinda Chong, Siobhan Lockwood, Robert Weintraub, Tina Thompson, Alison Trainer, Dominica Zentner, Jitendra Vohra, Michael Chetrit, David L Hare, Paul James

Journal article  |  2020  |  Journal of the American Heart Association

Background Dilated cardiomyopathy may be heritable but shows extensive genetic heterogeneity. The utility of whole exome sequencin..

Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53

Cristina Fortuno, Tina Pesaran, Jill Dolinsky, Amal Yussuf, Kelly McGoldrick, David Goldgar, Paul A James, Amanda B Spurdle

Journal article  |  2020  |  Human Mutation

The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for variant classi..

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..

Management of People With a Fontan Circulation: a Cardiac Society of Australia and New Zealand Position Statement

Dominica Zentner, David S Celermajer, Thomas Gentles, Yves d'Udekem, Julian Ayer, Gillian M Blue, Cameron Bridgman, Luke Burchill, Michael Cheung, Rachael Cordina, Evelyn Culnane, Andrew Davis, Karin du Plessis, Karen Eagleson, Kirsten Finucane, Belinda Frank, Sebastian Greenway, Leeanne Grigg, Winita Hardikar, Tim Hornung, et al.

Journal article  |  2020  |  Heart, Lung and Circulation

The Fontan circulation describes the circulatory state resulting from an operation in congenital heart disease where systemic veno..

Uptake of polygenic risk information among women at increased risk of breast cancer

Tatiane Yanes, Bettina Meiser, Rajneesh Kaur, Maatje Scheepers-Joynt, Simone McInerny, Shelby Taylor, Kristine Barlow-Stewart, Yoland Antill, Lucinda Salmon, Courtney Smyth, Mary-Anne Young, Paul A James

Journal article  |  2019  |  Clinical Genetics

Polygenic risk scores (PRSs) are increasingly being implemented to assess breast cancer risk. This study aimed to assess and deter..

Genetic resilience to Alzheimer's disease in APOE epsilon 4 homozygotes: A systematic review

Aamira J Huq, Peter Fransquet, Simon M Laws, Joanne Ryan, Robert Sebra, Colin L Masters, Ingrid M Winship, Paul A James, Paul Lacaze

Journal article  |  2019  |  Alzheimer's & Dementia

INTRODUCTION: Individuals with homozygosity for the apolipoprotein E (APOE) ε4 allele are in the highest risk category for late-on..

A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy

Max Catchpool, Jay Ramchand, Melissa Martyn, David L Hare, Paul A James, Alison H Trainer, Josh Knight, Illias Goranitis

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: To assess the relative cost-effectiveness of cascade genetic testing in asymptomatic relatives of patients with dilated c..

Combined Tumor Sequencing and Case-Control Analyses of RAD51C in Breast Cancer

Na Li, Simone McInerny, Magnus Zethoven, Dane Cheasley, Belle WX Lim, Simone M Rowley, Lisa Devereux, Norah Grewal, Somayeh Ahmadloo, David Byrne, Jue Er Amanda Lee, Jason Li, Stephen B Fox, Thomas John, Yoland Antill, Kylie L Gorringe, Paul A James, Ian G Campbell

Journal article  |  2019  |  JNCI: Journal of the National Cancer Institute

BACKGROUND: Loss-of-function variants in RAD51C are associated with familial ovarian cancer, but its role in hereditary breast can..

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

Elizabeth C Page, Elizabeth K Bancroft, Mark N Brook, Melissa Assel, Mona Hassan Al Battat, Sarah Thomas, Natalie Taylor, Anthony Chamberlain, Jennifer Pope, Holly Ni Raghallaigh, D Gareth Evans, Jeanette Rothwell, Lovise Maehle, Eli Marie Grindedal, Paul James, Lyon Mascarenhas, Joanne McKinley, Lucy Side, Tessy Thomas, Christi van Asperen, et al.

Journal article  |  2019  |  European Urology

BACKGROUND: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluatin..

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 ..

Cancer diagnoses following abnormal cell-free DNA detected via non-invasive prenatal testing: A case series, literature review, and proposed management model

Eryn Dow, Alison Freimund, Kortnye Smith, Rodney J Hicks, Peter Jurcevic, Mark Shackleton, Paul James, Andrew Fellowes, Mark Pertile, George McGillivray, Linda Mileshkin

Conference Proceedings  |  2019  |  ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

Yael Laitman, Tara M Friebel, Drakoulis Yannoukakos, Florentia Fostira, Irene Konstantopoulou, Gisella Figlioli, Bernardo Bonanni, Siranoush Manoukian, Monica Zuradelli, Carlo Tondini, Barbara Pasini, Paolo Peterlongo, Dijana Plaseska-Karanfilska, Milena Jakimovska, Keivan Majidzadeh, Shiva Zarinfam, Maria A Loizidou, Andreas Hadjisavvas, Kyriaki Michailidou, Kyriacos Kyriacou, et al.

Journal article  |  2019  |  Human Mutation

BRCA1 BRCA2 mutational spectrum in the Middle East, North Africa, and Southern Europe is not well characterized. The unique histor..

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..

Integration of tumour sequencing and case-control analyses is a powerful tool for identification of cancer predisposition genes

I Campbell, N Li, B Lim, S McInerny, M Zethoven, D Cheasley, S Rowley, L Devereux, A Lee, N Grewal, P James

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

Lei Zhang, Yining Bao, Moeen Riaz, Jane Tiller, Danny Liew, Xun Zhuang, David J Amor, Aamira Huq, Lara Petelin, Mark Nelson, Paul A James, Ingrid Winship, John J McNeil, Paul Lacaze

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: To consider the impact and cost-effectiveness of offering preventive population genomic screening to all young adults in ..

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadalo, Cora M Aalfs, Simona Agata, Kristiina Aittomaki, Elisa Alducci, Maria Concepcion Alonso-Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmana, Elena Barbieri, Claus R Bartram, Ana Blanco, Britta Bluemcke, et al.

Journal article  |  2019  |  Human Mutation

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for mu..

Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer

Erin Tutty, Lara Petelin, Joanne McKinley, Mary-Anne Young, Bettina Meiser, Victoria M Rasmussen, Rowan Forbes Shepherd, Paul A James, Laura E Forrest

Journal article  |  2019  |  European Journal of Human Genetics

A Microsimulation Model for Evaluating the Effectiveness of Cancer Risk Management for BRCA Pathogenic Variant Carriers: miBRovaCAre

Lara Petelin, Lucinda Hossack, Gillian Mitchell, Danny Liew, Alison H Trainer, Paul A James

Journal article  |  2019  |  Value in Health

Evaluation of a centralised national telephone genetic counselling service that facilitates BRCA1/2 testing for women with recurrent high-grade serous ovarian cancer

LE Forrest, J McKinley, R Forbes Shepherd, V Rasmussen, PA James, B Meiser, M Young

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Decision-making and experience of tamoxifen as chemoprevention to manage breast cancer risk for young women with a BRCA1/2 mutation

LE Forrest, R Forbes Shepherd, M Young, LA Keogh, PA James

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Uptake of polygenic risk information among women at potentially high breast cancer risk

T Yanes, B Meiser, R Kaur, M Scheepers-Joynt, M Young, K Barlow-Stewart, T John, M Harris, Y Antill, J Halliday, J Burke, T Roscioli, P Mitchell, P James

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands

David I Blusztein, Dominica Zentner, Tina Thompson, Pavithra Jayadeva, Danlu Liang, Ray Wang, Ingrid Winship, Paul A James, Alison H Trainer, Jonathan M Kalman, Jitendra Vohra

Journal article  |  2019  |  Heart, Lung and Circulation

p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients

Cristina Fortuno, Tina Pesaran, Jill Dolinsky, Amal Yussuf, Kelly McGoldrick, Pik Fang Kho, Paul A James, Amanda B Spurdle

Journal article  |  2019  |  Cancer Genetics

TP53 pathogenic germline variation is associated with the multi-cancer predisposition Li-Fraumeni syndrome (LFS). Next-generation ..

Molecular comparison of interval and screen-detected breast cancers

Dane Cheasley, Na Li, Simone M Rowley, Kenneth Elder, G Bruce Mann, Sherene Loi, Peter Savas, David L Goode, Tanjina Kader, Magnus Zethoven, Tim Semple, Stephen B Fox, Jia-Min Pang, David Byrne, Lisa Devereux, Carolyn Nickson, Pietro Procopio, Grant Lee, Siobhan Hughes, Hugo Saunders, et al.

Journal article  |  2019  |  The Journal of Pathology

A quantitative model to predict pathogenicity of missense variants in the TP53 gene

Cristina Fortuno, Arcadi Cipponi, Mandy L Ballinger, Sean Tavtigian, Magali Olivier, Vatsal Ruparel, Ygal Haupt, Sue Haupt, Kathy Tucker, Amanda B Spurdle, David M Thomas, Paul A James

Journal article  |  2019  |  Human Mutation

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

Men's experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome: "Just another straw on the stack".

Victoria Rasmussen, Rowan Forbes Shepherd, Laura Elenor Forrest, Paul A James, Mary-Anne Young

Journal article  |  2019  |  Journal of Genetic Counseling

The practice of recontacting patients to provide new health information is becoming increasingly common in clinical genetics, desp..

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility

Simone M Rowley, Lyon Mascarenhas, Lisa Devereux, Na Li, Kaushalya C Amarasinghe, Magnus Zethoven, Jue Er Amanda Lee, Alexandra Lewis, James A Morgan, Sharpe Limb, Mary-Anne Young, Paul A James, Alison H Trainer, Ian G Campbell

Journal article  |  2019  |  Genetics in Medicine

High-risk women's risk perception after receiving personalized polygenic breast cancer risk information

Laura Elenor Forrest, Sarah Dilys Sawyer, Nina Hallowell, Paul Andrew James, Mary-Anne Young

Journal article  |  2019  |  Journal of Community Genetics

Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk

Rajneesh Kaur, Bettina Meiser, Tatiane Yanes, Mary-Anne Young, Kristine Barlow-Stewart, Tony Roscioli, Sian Smith, Paul A James

Journal article  |  2019  |  Familial Cancer

Higher risk of phaeochromocytoma/ paraganglioma (Phaeo-Pgl) in SDHD than SDHB carriers: an Australian cohort study

Alice Hong, Mary Shanahan, Tess Schenberg, Warrick Inder, Richard MacIsaac, Paul James, Nirupa Sachithanandan

Journal article  |  2019  |  Internal Medicine Journal

A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system

Melissa Martyn, Anaita Kanga-Parabia, Elly Lynch, Paul A James, Ivan Macciocca, Alison H Trainer, Jane Halliday, Louise Keogh, Janney Wale, Ingrid Winship, Michael Bogwitz, Giulia Valente, Maie Walsh, Lilian Downie, David Amor, Mathew Wallis, Fiona Cunningham, Matthew Burgess, Natasha J Brown, Anna Jarmolowicz, et al.

Journal article  |  2019  |  Journal of Genetic Counseling

Insights into sudden cardiac death: exploring the potential relevance of non-diagnostic autopsy findings

Hariharan Raju, Sarah Parsons, Tina N Thompson, Natalie Morgan, Dominica Zentner, Alison H Trainer, Paul A James, Ingrid M Winship, Jonathan M Kalman, Jitendra Vohra

Journal article  |  2019  |  European Heart Journal

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

Judith E Grolleman, Richarda M de Voer, Fadwa A Elsayed, Maartje Nielsen, Robbert DA Weren, Claire Palles, Marjolijn JL Ligtenberg, Janet R Vos, Sanne W ten Broeke, Noel FCC de Miranda, Renske A Kuiper, Eveline J Kamping, Erik AM Jansen, M Elisa Vink-Borger, Isabell Popp, Alois Lang, Isabel Spier, Robert Hueneburg, Paul A James, Na Li, et al.

Journal article  |  2019  |  Cancer Cell

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

Prospective validation of the NCI Breast Cancer Risk Assessment Tool (Gail Model) on 40,000 Australian women

Carolyn Nickson, Pietro Procopio, Louiza S Velentzis, Sarah Carr, Lisa Devereux, Gregory Bruce Mann, Paul James, Grant Lee, Cameron Wellard, Ian Campbell

Journal article  |  2018  |  Breast Cancer Research

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome

Cristina Fortuno, Paul A James, Amanda B Spurdle

Journal article  |  2018  |  Human Mutation

Mapping the EORTC-QLQ-C30 to the EQ-5D-3L: An Assessment of Existing and Newly Developed Algorithms.

Fionn Woodcock, Brett Doble, undefined CANCER 2015 Consortium

Journal article  |  2018  |  Med Decis Making

OBJECTIVES: To assess the external validity of mapping algorithms for predicting EQ-5D-3L utility values from EORTC QLQ-C30 respon..

The contribution of rare variants, polygenic risk, and novel candidate genes to the hereditary risk of breast cancer in a large cohort of Breast Cancer families

PA James, N Li, S Rowley, D Goode, L Devereux, S McInerny, N Grewal, A Trainer, R Scott, I Campbell

Conference Proceedings  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Population-based testing for hereditary breast and ovarian cancer predisposing mutations in the Australian community

IG Campbell, S Rowley, AH Trainer, M Young, undefined Lifepool, L Devereux, PA James

Conference Proceedings  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in RECQL are not associated with breast cancer risk in an Australian population

Na Li, Simone M Rowley, David L Goode, Kaushalya C Amarasinghe, Simone McInerny, Lisa Devereux, Michelle W Wong-Brown, Richard Lupat, Jue Er Amanda Lee, Siobhan Hughes, Ella R Thompson, Magnus Zethoven, Jason Li, Alison H Trainer, Kylie L Gorringe, Rodney J Scott, Paul A James, Ian G Campbell

Journal article  |  2018  |  Nature Genetics

Gene Discovery through Germline Whole Exome Sequencing in Patients with Endometriosis-Associated Ovarian Cancer

Eryn Dow, Ian Campbell, Paul James, Yoland Antill, Deepak Subramanian

Conference Proceedings  |  2018  |  INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER

Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review

Lara Petelin, Alison H Trainer, Gillian Mitchell, Danny Liew, Paul A James

Journal article  |  2018  |  Genetics in Medicine

Changing landscape of hereditary breast and ovarian cancer germline genetic testing in Australia

Lara Petelin, Paul A James, Alison H Trainer

Journal article  |  2018  |  Internal Medicine Journal

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

The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers

Britta Weigelt, Rui Bi, Rahul Kumar, Pedro Blecua, Diana L Mandelker, Felipe C Geyer, Fresia Pareja, Paul A James, Fergus J Couch, Diana M Eccles, Fiona Blows, Paul Pharoah, Anqi Li, Pier Selenica, Raymond S Lim, Gowtham Jayakumaran, Nic Waddell, Ronglai Shen, Larry Norton, Hannah Y Wen, et al.

Journal article  |  2018  |  JNCI: Journal of the National Cancer Institute

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants

Cristina Fortuno, Paul A James, Erin L Young, Bing Feng, Magali Olivier, Tina Pesaran, Sean V Tavtigian, Amanda B Spurdle

Journal article  |  2018  |  Human Mutation

Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments

Lara Petelin, Danny Liew, Gillian Mitchell, Paul A James, Alison H Trainer

Journal article  |  2018  |  Value in Health

Cancer risk management in Tasmanian women with BRCA1 and BRCA2 mutations

Stephanie Kearton, Karen Wills, Michael Bunting, Penny Blomfield, Paul A James, Jo Burke

Journal article  |  2018  |  Familial Cancer

Making Sense of SNPs: Women's Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks

Mary-Anne Young, Laura Elenor Forrest, Victoria-Mae Rasmussen, Paul James, Gillian Mitchell, Sarah Dilys Sawyer, Katrina Reeve, Nina Hallowell

Journal article  |  2018  |  Journal of Genetic Counseling

Molecular analysis of PALB2-associated breast cancers

Jue Er Amanda Lee, Na Li, Simone M Rowley, Dane Cheasley, Magnus Zethoven, Simone McInerny, Kylie L Gorringe, Paul A James, Ian G Campbell

Journal article  |  2018  |  The Journal of Pathology

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

A rapid scoring tool to assess mutation probability in patients with inherited cardiac disorders

Dominica Zentner, Tina Thompson, Jessica Taylor, Michael Bogwitz, Alison Trainer, Jitendra Vohra, Ingrid Winship, Paul A James

Journal article  |  2018  |  European Journal of Medical Genetics

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition

Christos Mikropoulos, Christina G Hutten Selkirk, Sibel Saya, Elizabeth Bancroft, Emily Vertosick, Tokhir Dadaev, Charles Brendler, Elizabeth Page, Alexander Dias, D Gareth Evans, Jeanette Rothwell, Lovise Maehle, Karol Axcrona, Kate Richardson, Diana Eccles, Thomas Jensen, Palle J Osther, Christi J van Asperen, Hans Vasen, Lambertus A Kiemeney, et al.

Journal article  |  2018  |  British Journal of Cancer

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

Na Li, Simone M Rowley, Ella R Thompson, Simone McInerny, Lisa Devereux, Kaushalya C Amarasinghe, Magnus Zethoven, Richard Lupat, David Goode, Jason Li, Alison H Trainer, Kylie L Gorringe, Paul A James, Ian G Campbell

Journal article  |  2018  |  Breast Cancer Research

A comparison of Australian and French families affected by sarcoma: perceptions of genetics and incidental findings

Victoria Rasmussen, Laura E Forrest, Muriel Rogasik, Magali Girodet, Pierre Meeus, Marie-Pierre Sunyach, Jean-Yves Blay, Olivia Bally, Mehdi Brahmi, Mandy L Ballinger, Eveline Niedermayr, David M Thomas, Jane Halliday, Paul James, Isabelle Ray-Coquard, Mary-Anne Young

Journal article  |  2018  |  Personalized Medicine

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

Surveillance in Germline TP53 Mutation Carriers Utilizing Whole-Body Magnetic Resonance Imaging

Mandy L Ballinger, Nicholas J Ferris, Kate Moodie, Gillian Mitchell, Sue Shanley, Paul A James, David M Thomas

Journal article  |  2017  |  JAMA Oncology

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data

Zornitza Stark, Harriet Dashnow, Sebastian Lunke, Tiong Y Tan, Alison Yeung, Simon Sadedin, Natalie Thorne, Ivan Macciocca, Clara Gaff, Alicia Oshlack, Susan M White, Paul A James

Journal article  |  2017  |  European Journal of Human Genetics

Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study

Tatiane Yanes, Bettina Meiser, Mary-Anne Young, Rajneesh Kaur, Gillian Mitchell, Kristine Barlow-Stewart, Tony Roscioli, Jane Halliday, Paul James

Journal article  |  2017  |  BMC Cancer

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach

Goli Samimi, Marcus Q Bernardini, Lawrence C Brody, Charlisse F Caga-anan, Ian G Campbell, Georgia Chenevix-Trench, Fergus J Couch, Michael Dean, Joanne A de Hullu, Susan M Domchek, Ronny Drapkin, Heather Spencer Feigelson, Michael Friedlander, Mia M Gaudet, Marline G Harmsen, Karen Hurley, Paul A James, Janice S Kwon, Felicitas Lacbawan, Stephanie Lheureux, et al.

Journal article  |  2017  |  Journal of Clinical Oncology

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

Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours

Aidan Flynn, Trisha Dwight, Diana Benn, Siddhartha Deb, Andrew J Colebatch, Stephen Fox, Jessica Harris, Emma L Duncan, Bruce Robinson, Annette Hogg, Jason Ellul, Henry To, Duong Cuong, Julie A Miller, Christopher Yates, Paul James, Alison Trainer, Anthony J Gill, Roderick Clifton-Bligh, Rodney J Hicks, et al.

Journal article  |  2017  |  The Journal of Pathology

Relevance of DNA damage repair in the management of prostate cancer

Patricia Banks, Wen Xu, Declan Murphy, Paul James, Shahneen Sandhu

Journal article  |  2017  |  Current Problems in Cancer

A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation

AJ Huq, MD Pertile, AM Davis, H Landon, PA James, CF Kline, J Vohra, PJ Mohler, MB Delatycki

Journal article  |  2017  |  Heart, Lung and Circulation

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

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

Maie Walsh, Katrina M Bell, Belinda Chong, Emma Creed, Gemma R Brett, Kate Pope, Natalie P Thorne, Simon Sadedin, Peter Georgeson, Dean G Phelan, Timothy Day, Jessica A Taylor, Adrienne Sexton, Paul J Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara L Gaff, Alicia Oshlack, Eppie M Yiu, et al.

Journal article  |  2017  |  Annals of Clinical and Translational Neurology

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy

Piero Perucca, Ingrid E Scheffer, A Simon Harvey, Paul A James, Sebastian Lunke, Natalie Thorne, Clara Gaff, Brigid M Regan, John A Damiano, Michael S Hildebrand, Samuel F Berkovic, Terence J O'Brien, Patrick Kwan

Journal article  |  2017  |  Epilepsy Research

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

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

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G Ekert, Christiane Theda, Paul A James, Joy Yaplito-Lee, Monique M Ryan, Richard J Leventer, et al.

Journal article  |  2016  |  Genetics in Medicine

Reevaluation of RINT1 as a breast cancer predisposition gene

Na Li, Ella R Thompson, Simone M Rowley, Simone McInerny, Lisa Devereux, David Goode, Michelle W Wong-Brown, Rodney J Scott, Alison H Trainer, Kylie L Gorringe, Paul A James, Ian G Campbell

Journal article  |  2016  |  Breast Cancer Research and Treatment

Monogenic and polygenic determinants of sarcoma risk: an international genetic study

Mandy L Ballinger, David L Goode, Isabelle Ray-Coquard, Paul A James, Gillian Mitchell, Eveline Niedermayr, Ajay Puri, Joshua D Schiffman, Gillian S Dite, Arcadi Cipponi, Robert G Maki, Andrew S Brohl, Ola Myklebost, Eva W Stratford, Susanne Lorenz, Sung-Min Ahn, Jin-Hee Ahn, Jeong Eun Kim, Sue Shanley, Victoria Beshay, et al.

Journal article  |  2016  |  The Lancet Oncology

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy(aEuro)

Dean G Phelan, David J Anderson, Sara E Howden, Raymond CB Wong, Peter F Hickey, Kate Pope, Gabrielle R Wilson, Alice Pebay, Andrew M Davis, Steven Petrou, Andrew G Elefanty, Edouard G Stanley, Paul A James, Ivan Macciocca, Melanie Bahlo, Michael M Cheung, David J Amor, David A Elliott, Paul J Lockhart

Journal article  |  2016  |  European Heart Journal

DNA copy number variants: A potentially useful predictor of early onset renal failure in boys with posterior urethral valves

A Faure, A Bouty, G Caruana, L Williams, T Burgess, MN Wong, PA James, M O'Brien, A Walker, JF Bertram, Y Heloury

Journal article  |  2016  |  Journal of Pediatric Urology

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

Natalia Duarte Linhares, Maira Cristina Menezes Freire, Raony Guimaraes Correa do Carmo Lisboa Cardenas, Heloisa Barbosa Pena, Katherine Lachlan, Bruno Dallapiccola, Carlos Bacino, Bruno Delobel, Paul James, Ann-Charlotte Thuresson, Goran Anneren, Sergio DJ Pena

Journal article  |  2016  |  Genetics and Molecular Biology

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

RD Bagnall, RG Weintraub, J Ingles, J Duflou, L Yeates, L Lam, AM Davis, T Thompson, V Connell, J Wallace, C Naylor, J Crawford, DR Love, L Hallam, J White, C Lawrence, M Lynch, N Morgan, P James, D du Sart, et al.

Journal article  |  2016  |  New England Journal of Medicine

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

Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care

Ella R Thompson, Simone M Rowley, Na Li, Simone McInerny, Lisa Devereux, Michelle W Wong-Brown, Alison H Trainer, Gillian Mitchell, Rodney J Scott, Paul A James, Ian G Campbell

Journal article  |  2016  |  Journal of Clinical Oncology

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

Pheo-Type: A Diagnostic Gene-expression Assay for the Classification of Pheochromocytoma and Paraganglioma

Aidan Flynn, Trisha Dwight, Jessica Harris, Diana Benn, Li Zhou, Annette Hogg, Daniel Catchpoole, Paul James, Emma L Duncan, Alison Trainer, Anthony J Gill, Roderick Clifton-Bligh, Rodney J Hicks, Richard W Tothill

Journal article  |  2016  |  The Journal of Clinical Endocrinology & Metabolism

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

Realising the Value of Linked Data to Health Economic Analyses of Cancer Care: A Case Study of Cancer 2015

Paula K Lorgelly, Brett Doble, Rachel J Knott

Journal article  |  2016  |  PharmacoEconomics

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

"Cancer 2015": A Prospective, Population-Based Cancer Cohort-Phase 1: Feasibility of Genomics-Guided Precision Medicine in the Clinic

John P Parisot, Heather Thorne, Andrew Fellowes, Ken Doig, Mark Lucas, John J McNeil, Brett Doble, Alexander Dobrovic, Thomas John, Paul A James, Lara Lipton, David Ashley, Theresa Hayes, Paul McMurrick, Gary Richardson, Paula Lorgelly, Stephen B Fox, David M Thomas

Journal article  |  2015  |  Journal of Personalized Medicine

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

Ella R Thompson, Kylie L Gorringe, Simone M Rowley, Na Li, Simone McInerny, Michelle W Wong-Brown, Lisa Devereux, Jason Li, Alison H Trainer, Gillian Mitchell, Rodney J Scott, Paul A James, Ian G Campbell

Journal article  |  2015  |  Sci Rep

The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine

Dominica Zentner, Tina N Thompson, Paul A James, Alison Trainer, Lesley C Ades, Ivan Macciocca, Jessica A Taylor, Kirsty Mann, Michael Bogwitz, Nigel Lewis, Natalie Morgan, Jitendra Vohra, Ingrid Winship

Journal article  |  2015  |  Medical Journal of Australia

FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Paolo Peterlongo, Irene Catucci, Mara Colombo, Laura Caleca, Eliseos Mucaki, Massimo Bogliolo, Maria Marin, Francesca Damiola, Loris Bernard, Valeria Pensotti, Sara Volorio, Valentina Dall'Olio, Alfons Meindl, Claus Bartram, Christian Sutter, Harald Surowy, Valerie Sornin, Marie-Gabrielle Dondon, Severine Eon-Marchais, Dominique Stoppa-Lyonnet, et al.

Journal article  |  2015  |  Human Molecular Genetics

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

Ella R Thompson, Kylie L Gorringe, Simone M Rowley, Michelle W Wong-Brown, Simone McInerny, Na Li, Alison H Trainer, Lisa Devereux, Maria A Doyle, Jason Li, Richard Lupat, Martin B Delatycki, Gillian Mitchell, Paul A James, Rodney J Scott, Ian G Campbell

Journal article  |  2015  |  Breast Cancer Res

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Simon P Sadedin, Harriet Dashnow, Paul A James, Melanie Bahlo, Denis C Bauer, Andrew Lonie, Sebastian Lunke, Ivan Macciocca, Jason P Ross, Kirby R Siemering, Zornitza Stark, Susan M White, Graham Taylor, Clara Gaff, Alicia Oshlack, Natalie P Thorne

Journal article  |  2015  |  Genome Medicine

Clinical implications of genomics for cancer risk genetics

David M Thomas, Paul A James, Mandy L Ballinger

Journal article  |  2015  |  The Lancet Oncology

Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features

Paul A James, Sarah Sawyer, Samantha Boyle, Mary-Anne Young, Serguei Kovalenko, Rebecca Doherty, Joanne McKinley, Kathryn Alsop, Victoria Beshay, Marion Harris, Stephen Fox, Geoffrey J Lindeman, Gillian Mitchell

Journal article  |  2015  |  Familial Cancer

The genomic landscape of phaeochromocytoma

Aidan Flynn, Diana Benn, Roderick Clifton-Bligh, Bruce Robinson, Alison H Trainer, Paul James, Annette Hogg, Kelly Waldeck, Joshy George, Jason Li, Stephen B Fox, Anthony J Gill, Grant McArthur, Rodney J Hicks, Richard W Tothill

Journal article  |  2015  |  J Pathol

Copy-number variation associated with congenital anomalies of the kidney and urinary tract

Georgina Caruana, Milagros N Wong, Amanda Walker, Yves Heloury, Nathalie Webb, Lilian Johnstone, Paul A James, Trent Burgess, John F Bertram

Journal article  |  2015  |  Pediatric Nephrology

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

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology

Gabrielle R Wilson, Joe CH Sim, Catriona McLean, Maila Giannandrea, Charles A Galea, Jessica R Riseley, Sarah EM Stephenson, Elizabeth Fitzpatrick, Stefan A Haas, Kate Pope, Kirk J Hogan, Ronald G Gregg, Catherine J Bromhead, David S Wargowski, Christopher H Lawrence, Paul A James, Andrew Churchyard, Yujing Gao, Dean G Phelan, Greta Gillies, et al.

Journal article  |  2014  |  The American Journal of Human Genetics

A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype

Andris H Ellims, Leah M Iles, Liang-han Ling, Belinda Chong, Ivan Macciocca, Glenn S Slavin, James L Hare, David M Kaye, Silvana F Marasco, Catriona A McLean, Paul A James, Desiree du Sart, Andrew J Taylor

Journal article  |  2014  |  European Heart Journal - Cardiovascular Imaging

Interdisciplinary Education for Genetic Counselors: Developing the Concept and Assessing the Need in Australasia

Kirsty J Mann, Jessica A Taylor, Paul A James, Clara Gaff

Journal article  |  2014  |  Journal of Genetic Counseling

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

Spot Diagnosis

Zornitza Stark, Lynda J Campbell, Catherine Mitchell, Paul A James, John A Heath, Alex Boussioutas, Craig Lynch, Alison H Trainer

Journal article  |  2014  |  New England Journal of Medicine

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

The Angelina Jolie effect

Paul A James, Gillian Mitchell, Michael Bogwitz, Geoffrey J Lindeman

Journal article  |  2013  |  Medical Journal of Australia

High Frequency of Germline TP53 Mutations in a Prospective Adult-Onset Sarcoma Cohort

Gillian Mitchell, Mandy L Ballinger, Stephen Wong, Chelsee Hewitt, Paul James, Mary-Anne Young, Arcadi Cipponi, Tiffany Pang, David L Goode, Alex Dobrovic, David M Thomas

Journal article  |  2013  |  PLoS One

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

Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer

DR Barnes, D Barrowdale, J Beesley, X Chen, PA James, JL Hopper, D Goldgar, G Chenevix-Trench, AC Antoniou, G Mitchell

Journal article  |  2013  |  British Journal of Cancer

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

Cancer Risks for MLH1 and MSH2 Mutation Carriers

James G Dowty, Aung K Win, Daniel D Buchanan, Noralane M Lindor, Finlay A Macrae, Mark Clendenning, Yoland C Antill, Stephen N Thibodeau, Graham Casey, Steve Gallinger, Loic Le Marchand, Polly A Newcomb, Robert W Haile, Graeme P Young, Paul A James, Graham G Giles, Shanaka R Gunawardena, Barbara A Leggett, Michael Gattas, Alex Boussioutas, et al.

Journal article  |  2013  |  Human Mutation

Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer

Ella R Thompson, Simone M Rowley, Sarah Sawyer, Diana M Eccles, Alison H Trainer, Gillian Mitchell, Paul A James, Ian G Campbell

Journal article  |  2013  |  PLoS One

The genetics of cardiomyopathy, new technologies and the path to personalised medicine

D Phelan, GR Wilson, PA James, PJ Lockhart

Journal article  |  2013  |  OA Genetics

Introduction Cardiomyopathy is defined as the weakening of the heart muscle, which reduces the ability of the heart to pump blood..

A Role for Common Genomic Variants in the Assessment of Familial Breast Cancer

Sarah Sawyer, Gillian Mitchell, Joanne McKinley, Georgia Chenevix-Trench, Jonathan Beesley, Xiao Qing Chen, David Bowtell, Alison H Trainer, Marion Harris, Geoffrey J Lindeman, Paul A James

Journal article  |  2012  |  Journal of Clinical Oncology

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

Nick Orr, Alina Lemnrau, Rosie Cooke, Olivia Fletcher, Katarzyna Tomczyk, Michael Jones, Nichola Johnson, Christopher J Lord, Costas Mitsopoulos, Marketa Zvelebil, Simon S McDade, Gemma Buck, Christine Blancher, Alison H Trainer, Paul A James, Stig E Bojesen, Susanne Bokmand, Heli Nevanlinna, Johanna Mattson, Eitan Friedman, et al.

Journal article  |  2012  |  Nature Genetics

Rare variants in XRCC2 as breast cancer susceptibility alleles

Florentine S Hilbers, Juul T Wijnen, Nicoline Hoogerbrugge, Jan C Oosterwijk, Margriet J Collee, Paolo Peterlongo, Paolo Radice, Siranoush Manoukian, Irene Feroce, Fabio Capra, Fergus J Couch, Xianshu Wang, Lucia Guidugli, Kenneth Offit, Sohela Shah, Ian G Campbell, Ella R Thompson, Paul A James, Alison H Trainer, Javier Gracia, et al.

Journal article  |  2012  |  Journal of Medical Genetics

The consequences of risk reducing salpingo-oophorectomy: the case for a coordinated approach to long-term follow up post surgical menopause

Carmel Pezaro, Paul James, Joanne McKinley, Mary Shanahan, Mary-Anne Young, Gillian Mitchell

Journal article  |  2012  |  Familial Cancer

Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

Ella R Thompson, Maria A Doyle, Georgina L Ryland, Simone M Rowley, David YH Choong, Richard W Tothill, Heather Thorne, Daniel R Barnes, Jason Li, Jason Ellul, Gayle K Philip, Yoland C Antill, Paul A James, Alison H Trainer, Gillian Mitchell, Ian G Campbell

Journal article  |  2012  |  PLoS Genetics

Analysis of RAD51C Germline Mutations in High-Risk Breast and Ovarian Cancer Families and Ovarian Cancer Patients

Ella R Thompson, Samantha E Boyle, Julie Johnson, Georgina L Ryland, Sarah Sawyer, David YH Choong, Georgia Chenevix-Trench, Alison H Trainer, Geoffrey J Lindeman, Gillian Mitchell, Paul A James, Ian G Campbell

Journal article  |  2012  |  Human Mutation

Breast Conservation Versus Mastectomy in Triple-Negative Breast Cancer: Two Steps Forward, One Step Back?

Alison H Trainer, Paul A James, G Bruce Mann, Geoffrey J Lindeman

Journal article  |  2011  |  Journal of Clinical Oncology

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

Damien L Bruno, Zornitza Stark, David J Amor, Trent Burgess, Kathy Butler, Sylvea Corrie, David Francis, Devika Ganesamoorthy, Louise Hills, Paul A James, Darren O'Rielly, Ralph Oertel, Ravi Savarirayan, Krishnamurthy Prabhakara, Nicholas Salce, Howard R Slater

Journal article  |  2011  |  Human Mutation

BRCA and Beyond: A Genome-first Approach to Familial Breast Cancer Risk Assessment

Alison H Trainer, Ella R Thompson, Paul A James

Journal article  |  2011  |  Discovery medicine

High-Level 46XX/46XY Chimerism Without Clinical Effect in a Healthy Multiparous Female

Paul A James, Katherine Rose, David Francis, Fiona Norris

Journal article  |  2011  |  American Journal of Medical Genetics Part A

Brugada Syndrome Caused by a Large Deletion in SCN5A Only Detected by Multiplex Ligation-Dependent Probe Amplification

Lucas J Eastaugh, Paul A James, Dean G Phelan, Andrew M Davis

Journal article  |  2011  |  Journal of Cardiovascular Electrophysiology

Phenotypic Variability of Distal 22q11.2 Copy Number Abnormalities

Tiong Yang Tan, Amanda Collins, Paul A James, George McGillivray, Zornitza Stark, Christopher T Gordon, Richard J Leventer, Kate Pope, Robin Forbes, John A Crolla, Devika Ganesamoorthy, Trent Burgess, Damien L Bruno, Howard R Slater, Peter G Farlie, David J Amor

Journal article  |  2011  |  American Journal of Medical Genetics. Part A

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Damien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, Conny van Ravenswaaij-Arts, Devika Ganesamoorthy, Johanna Lundin, Christa Lese Martin, Jessica Douglas, Catherine Nowak, Margaret P Adam, R Frank Kooy, Nathalie Van der Aa, Edwin Reyniers, Geert Vandeweyer, Irene Stolte-Dijkstra, Trijnie Dijkhuizen, Alison Yeung, Martin Delatycki, Birgit Borgstrom, Lena Thelin, et al.

Journal article  |  2010  |  Journal of Medical Genetics

Breast Cancer Risk Is Not Increased in Individuals with TWISTI Mutation Confirmed Saethre-Chotzen Syndrome: An Australian Multicenter Study

Paul A James, Bronwyn Culling, Glenda Mullan, Mark Jenkins, George Elalkis, Anne M Turners, David M Mowat, Meredith Wilson, Peter Anderson, Ravi Savarirayan, Simon T Cliffe, Melody Caramins, Michael F Buckley, Kathy Tucker, Tony Roscioli

Journal article  |  2009  |  Genes, Chromosomes & Cancer

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

DL Bruno, D Ganesamoorthy, J Schoumans, A Bankier, D Coman, M Delatycki, RJM Gardner, M Hunter, PA James, P Kannu, G McGillivray, N Pachter, H Peters, C Rieubland, R Savarirayan, IE Scheffer, L Sheffield, T Tan, SM White, A Yeung, et al.

Journal article  |  2009  |  Journal of Medical Genetics

Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia

PA James, J Shaw, D du Sart, E Craig, JF Bateman, R Savarirayan

Journal article  |  2003  |  Prenatal Diagnosis