David Goldgar

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..

Considerations When Using Breast Cancer Risk Models for Women with Negative BRCA1/BRCA2 Mutation Results

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

Journal article  |  2020  |  Journal of the National Cancer Institute

The performance of breast cancer risk models for women with a family history but negative BRCA1 and/or BRCA2 mutation test results..

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..

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

Hongyan Li, Mary Beth Terry, Antonis C Antoniou, Kelly-Anne Phillips, Karin Kast, Thea M Mooij, Christoph Engel, Catherine Nogues, Dominique Stoppa-Lyonnet, Christine Lasset, Pascaline Berthet, Veronique Mari, Olivier Caron, Daniel Barrowdale, Debra Frost, Carole Brewer, D Gareth Evans, Louise Izatt, Lucy Side, Lisa Walker, et al.

Journal article  |  2020  |  Cancer Epidemiology Biomarkers & Prevention

BACKGROUND: Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effect..

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

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

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

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

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

ENIGMA-Evidence-Based Network for the Interpretation of Germline Mutant Alleles: An International Initiative to Evaluate Risk and Clinical Significance Associated with Sequence Variation in BRCA1 and BRCA2 Genes

Amanda B Spurdle, Sue Healey, Andrew Devereau, Frans BL Hogervorst, Alvaro NA Monteiro, Katherine L Nathanson, Paolo Radice, Dominique Stoppa-Lyonnet, Sean Tavtigian, Barbara Wappenschmidt, Fergus J Couch, David E Goldgar

Journal article  |  2012  |  Human Mutation