Melissa Southey

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

Iris Kramer, Maartje J Hooning, Nasim Mavaddat, Michael Hauptmann, Renske Keeman, Ewout W Steyerberg, Daniele Giardiello, Antonis C Antoniou, Paul DP Pharoah, Sander Canisius, Zumuruda Abu-Ful, Irene L Andrulis, Hoda Anton-Culver, Kristan J Aronson, Annelie Augustinsson, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, et al.

Journal article  |  2020  |  American Journal of Human Genetics

Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing ..

Genetic and environmental causes of variation in epigenetic aging across the lifespan

Shuai Li, Tuong L Nguyen, Ee Ming Wong, Pierre-Antoine Dugue, Gillian S Dite, Nicola J Armstrong, Jeffrey M Craig, Karen A Mather, Perminder S Sachdev, Richard Saffery, Joohon Sung, Qihua Tan, Anbupalam Thalamuthu, Roger L Milne, Graham G Giles, Melissa C Southey, John L Hopper

Journal article  |  2020  |  Clinical Epigenetics

BACKGROUND: DNA methylation-based biological age (DNAm age) is an important biomarker for adult health. Studies in specific age ra..

DNA Methylation in Peripheral Blood and Risk of Gastric Cancer: A Prospective Nested Case-control Study.

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

Journal article  |  2020  |  Cancer Prevention Research

DNA methylation in peripheral blood is a potential biomarker of gastric cancer risk which could be used for early detection. We co..

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

Taru A Muranen, Sofia Khan, Rainer Fagerholm, Kristiina Aittomaeki, Julie M Cunningham, Joe Dennis, Goska Leslie, Lesley McGuffog, Michael T Parsons, Jacques Simard, Susan Slager, Penny Soucy, Douglas F Easton, Marc Tischkowitz, Amanda B Spurdle, Rita K Schmutzler, Barbara Wappenschmidt, Eric Hahnen, Maartje J Hooning, Christian F Singer, et al.

Journal article  |  2020  |  npj Breast Cancer

Abstract Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor ..

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Valentina Silvestri, Goska Leslie, Daniel R Barnes, undefined CIMBA Group, Bjarni A Agnarsson, Kristiina Aittomäki, Elisa Alducci, Irene L Andrulis, Rosa B Barkardottir, Alicia Barroso, Daniel Barrowdale, Javier Benitez, Bernardo Bonanni, Ake Borg, Saundra S Buys, Trinidad Caldés, Maria A Caligo, Carlo Capalbo, Ian Campbell, Wendy K Chung, et al.

Journal article  |  2020  |  JAMA Oncology

Importance: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the..

Analytical validation of an error-corrected ultra-sensitive ctDNA next-generation sequencing assay

Heidi Fettke, Jason A Steen, Edmond M Kwan, Patricia Bukczynska, Shivakumar Keerthikumar, David Goode, Maria Docanto, Nicole Ng, Luciano Martelotto, Christine Hauser, Melissa C Southey, Arun A Azad, Tu Nguyen-Dumont

Journal article  |  2020  |  BioTechniques: the journal of laboratory technology for bioresearch

Plasma circulating tumor DNA (ctDNA) analysis has emerged as a minimally invasive means to perform molecular tumor typing. Here we..

Prognostic Impact of Total Plasma Cell-free DNA Concentration in Androgen Receptor Pathway Inhibitor-treated Metastatic Castration-resistant Prostate Cancer.

Heidi Fettke, Edmond M Kwan, Patricia Bukczynska, Nicole Ng, Tu Nguyen-Dumont, Melissa C Southey, Ian D Davis, Andrew Mant, Phillip Parente, Carmel Pezaro, Christine Hauser, Arun A Azad

Journal article  |  2020  |  European Urology Focus

Total plasma cell-free DNA (cfDNA) levels were recently shown to be prognostic in two large phase III trials of taxane chemotherap..

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic 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..

Abstract IA02: DNA repair gene promoter methylation patterns adapt and influence PARP inhibitor response

Kasenija Nesic, Rachel M Hurley, Cordelia McGehee, Olga Kondrashova, Maria I Harrell, Giada V Zapparoli, Ashan Musafer, Ming E Wong, John Weroha, Xiaonan Hou, Hu Li, Vivian Negron, Kevin Peterson, Paula Schneider, Elizabeth M Swisher, Melissa Southey, Alexander Dobrovic, Matthew Wakefield, Scott H Kaufmann, Clare L Scott

Conference Proceedings  |  2020  |  Oral Presentations - Invited Abstracts

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

Haoyu Zhan, 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 Aittomaki, 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..