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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

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  • Juliette Coignard

    (Inserm, U900
    Institut Curie Paris
    Mines ParisTech Fontainebleau
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

  • Michael Lush

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

  • Jonathan Beesley

    (Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute)

  • Tracy A. O’Mara

    (Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute)

  • Joe Dennis

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

  • Jonathan P. Tyrer

    (Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge)

  • Daniel R. Barnes

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

  • Lesley McGuffog

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

  • Goska Leslie

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

  • Manjeet K. Bolla

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

  • Muriel A. Adank

    (Family Cancer Clinic, The Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital)

  • Simona Agata

    (Unit Veneto Institute of Oncology IOV – IRCCS)

  • Thomas Ahearn

    (Division of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services)

  • Kristiina Aittomäki

    (Helsinki University Hospital University of Helsinki)

  • Irene L. Andrulis

    (Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital
    Department of Molecular Genetics University of Toronto)

  • Hoda Anton-Culver

    (Genetic Epidemiology Research Institute University of California Irvine)

  • Volker Arndt

    (Division of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ))

  • Norbert Arnold

    (Christian-Albrechts University Kiel
    Christian-Albrechts University Kiel)

  • Kristan J. Aronson

    (Department of Public Health Sciences, and Cancer Research Institute Queen’s University)

  • Banu K. Arun

    (Department of Breast Medical Oncology University of Texas MD Anderson Cancer Center)

  • Annelie Augustinsson

    (Clinical Sciences Lund University)

  • Jacopo Azzollini

    (Unit of Medical Genetics, Department of Medical Oncology and Hematology Fondazione IRCCS Istituto Nazionale dei Tumori di Milano)

  • Daniel Barrowdale

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

  • Caroline Baynes

    (Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge)

  • Heiko Becher

    (Institute for Medical Biometrics and Epidemiology University Medical Center Hamburg-Eppendorf)

  • Marina Bermisheva

    (Institute of Biochemistry and Genetics Ufa Federal Research Centre of the Russian Academy of Sciences)

  • Leslie Bernstein

    (Department of Population Sciences Beckman Research Institute of City of Hope)

  • Katarzyna Białkowska

    (Department of Genetics and Pathology Pomeranian Medical University Szczecin)

  • Carl Blomqvist

    (Helsinki University Hospital University of Helsinki
    Department of Oncology Örebro University Hospital)

  • Stig E. Bojesen

    (Herlev and Gentofte Hospital Copenhagen University Hospital
    Herlev and Gentofte Hospital Copenhagen University Hospital
    Faculty of Health and Medical Sciences University of Copenhagen)

  • Bernardo Bonanni

    (European Institute of Oncology IRCCS)

  • Ake Borg

    (Department of Oncology Lund University and Skåne University Hospital)

  • Hiltrud Brauch

    (Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology
    iFIT-Cluster of Excellence University of Tübingen
    German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT))

  • Hermann Brenner

    (Division of Clinical Epidemiology and Aging Research German Cancer Research Center (DKFZ)
    German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT)
    German Cancer Research Center (DKFZ))

  • Barbara Burwinkel

    (Molecular Epidemiology Group, C080 German Cancer Research Center (DKFZ)
    University Womens Clinic Heidelberg University of Heidelberg)

  • Saundra S. Buys

    (Department of Medicine Huntsman Cancer Institute)

  • Trinidad Caldés

    (Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos))

  • Maria A. Caligo

    (SOD Genetica Molecolare University Hospital)

  • Daniele Campa

    (Department of Biology University of Pisa
    Division of Cancer Epidemiology German Cancer Research Center (DKFZ))

  • Brian D. Carter

    (Behavioral and Epidemiology Research Group American Cancer Society Atlanta)

  • Jose E. Castelao

    (Xerencia de Xestion Integrada de Vigo-SERGAS)

  • Jenny Chang-Claude

    (Division of Cancer Epidemiology German Cancer Research Center (DKFZ)
    University Cancer Center Hamburg (UCCH) University Medical Center Hamburg-Eppendorf)

  • Stephen J. Chanock

    (Division of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services)

  • Wendy K. Chung

    (Departments of Pediatrics and Medicine, Columbia University)

  • Kathleen B. M. Claes

    (Centre for Medical Genetics Ghent University)

  • Christine L. Clarke

    (Westmead Institute for Medical Research University of Sydney)

  • J. Margriet Collée

    (Department of Clinical Genetics Erasmus University Medical Center)

  • Don M. Conroy

    (Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge)

  • Kamila Czene

    (Karolinska Institutet)

  • Mary B. Daly

    (Department of Clinical Genetics Fox Chase Cancer Center Philadelphia)

  • Peter Devilee

    (Department of Pathology Leiden University Medical Center
    Department of Human Genetics Leiden University Medical Center)

  • Orland Diez

    (Oncogenetics Group Vall d’Hebron Institute of Oncology (VHIO)
    Clinical and Molecular Genetics Area University Hospital Vall d’Hebron)

  • Yuan Chun Ding

    (Department of Population Sciences Beckman Research Institute of City of Hope)

  • Susan M. Domchek

    (Basser Center for BRCA, Abramson Cancer Center University of Pennsylvania)

  • Thilo Dörk

    (Hannover Medical School)

  • Isabel dos-Santos-Silva

    (Department of Non-Communicable Disease Epidemiology London School of Hygiene and Tropical Medicine)

  • Alison M. Dunning

    (Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge)

  • Miriam Dwek

    (School of Life Sciences University of Westminster)

  • Diana M. Eccles

    (Faculty of Medicine University of Southampton)

  • A. Heather Eliassen

    (Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School
    Department of Epidemiology Harvard TH Chan School of Public Health)

  • Christoph Engel

    (Institute for Medical Informatics, Statistics and Epidemiology University of Leipzig)

  • Mikael Eriksson

    (Karolinska Institutet)

  • D. Gareth Evans

    (Manchester Universities Foundation Trust, St Mary’s Hospital
    Manchester Universities Foundation Trust, St Mary’s Hospital)

  • Peter A. Fasching

    (David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology University of California at Los Angeles
    Comprehensive Cancer Center ER-EMN University Hospital Erlangen, Friedrich-Alexander-University, Erlangen-Nuremberg)

  • Henrik Flyger

    (Herlev and Gentofte Hospital Copenhagen University Hospital)

  • Florentia Fostira

    (INRASTES National Centre for Scientific Research íDemokritosí)

  • Eitan Friedman

    (The Susanne Levy Gertner Oncogenetics Unit Chaim Sheba Medical Center
    Sackler Faculty of Medicine Tel Aviv University)

  • Lin Fritschi

    (School of Public Health Curtin University)

  • Debra Frost

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

  • Manuela Gago-Dominguez

    (Complejo Hospitalario Universitario de Santiago, SERGAS
    Moores Cancer Center University of California)

  • Susan M. Gapstur

    (Behavioral and Epidemiology Research Group American Cancer Society Atlanta)

  • Judy Garber

    (Dana-Farber Cancer Institute)

  • Vanesa Garcia-Barberan

    (Centro Investigación Biomédica en Red de Cáncer (CIBERONC))

  • Montserrat García-Closas

    (Division of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services)

  • José A. García-Sáenz

    (Centro Investigación Biomédica en Red de Cáncer (CIBERONC))

  • Mia M. Gaudet

    (Behavioral and Epidemiology Research Group American Cancer Society Atlanta)

  • Simon A. Gayther

    (Center for Bioinformatics and Functional Genomics and the Cedars Sinai Genomics Core Cedars-Sinai Medical Center)

  • Andrea Gehrig

    (Department of Human Genetics University Würzburg)

  • Vassilios Georgoulias

    (Department of Medical Oncology University Hospital of Heraklion)

  • Graham G. Giles

    (Cancer Epidemiology Division Cancer Council Victoria
    The University of Melbourne
    Precision Medicine, School of Clinical Sciences at Monash Health Monash University)

  • Andrew K. Godwin

    (University of Kansas Medical Center)

  • Mark S. Goldberg

    (Department of Medicine, McGill University
    Royal Victoria Hospital McGill University Montréal)

  • David E. Goldgar

    (University of Utah School of Medicine)

  • Anna González-Neira

    (Human Cancer Genetics Programme Spanish National Cancer Research Centre (CNIO))

  • Mark H. Greene

    (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute)

  • Pascal Guénel

    (University Paris-Sud, University Paris-Saclay)

  • Lothar Haeberle

    (University Hospital Erlangen Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN)

  • Eric Hahnen

    (University of Cologne
    University of Cologne)

  • Christopher A. Haiman

    (Keck School of Medicine University of Southern California)

  • Niclas Håkansson

    (Södersjukhuset)

  • Per Hall

    (Karolinska Institutet
    Södersjukhuset)

  • Ute Hamann

    (Molecular Genetics of Breast Cancer German Cancer Research Center (DKFZ))

  • Patricia A. Harrington

    (Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge)

  • Steven N. Hart

    (Department of Health Sciences Research, Mayo Clinic)

  • Wei He

    (Karolinska Institutet)

  • Frans B. L. Hogervorst

    (Family Cancer Clinic, The Netherlands Cancer Institute, Antoni van Leeuwenhoek hospital)

  • Antoinette Hollestelle

    (Family Cancer Clinic Erasmus MC Cancer Institute)

  • John L. Hopper

    (The University of Melbourne)

  • Darling J. Horcasitas

    (New Mexico Oncology Hematology Consultants, University of New Mexico)

  • Peter J. Hulick

    (Center for Medical Genetics NorthShore University HealthSystem
    The University of Chicago Pritzker School of Medicine Chicago)

  • David J. Hunter

    (Department of Epidemiology Harvard TH Chan School of Public Health
    Program in Genetic Epidemiology and Statistical Genetics Harvard TH Chan School of Public Health Boston
    Nuffield Department of Population Health University of Oxford)

  • Evgeny N. Imyanitov

    (NN Petrov Institute of Oncology)

  • Agnes Jager

    (Family Cancer Clinic Erasmus MC Cancer Institute)

  • Anna Jakubowska

    (Department of Genetics and Pathology Pomeranian Medical University Szczecin
    Independent Laboratory of Molecular Biology and Genetic Diagnostics Pomeranian Medical University)

  • Paul A. James

    (Sir Peter MacCallum Department of Oncology The University of Melbourne
    Parkville Familial Cancer Centre Peter MacCallum Cancer Center)

  • Uffe Birk Jensen

    (Department of Clinical Genetics Aarhus, University Hospital)

  • Esther M. John

    (Division of Oncology, Stanford University School of Medicine
    Stanford University School of Medicine)

  • Michael E. Jones

    (Stanford University School of Medicine)

  • Rudolf Kaaks

    (Division of Cancer Epidemiology German Cancer Research Center (DKFZ))

  • Pooja Middha Kapoor

    (Division of Cancer Epidemiology German Cancer Research Center (DKFZ)
    Division of Genetics and Epidemiology The Institute of Cancer Research)

  • Beth Y. Karlan

    (Faculty of Medicine University of Heidelberg
    David Geffen School of Medicine, Department of Obstetrics and Gynecology University of California at Los Angeles)

  • Renske Keeman

    (Womenís Cancer Program at the Samuel Oschin Comprehensive Cancer Institute Cedars-Sinai Medical Center)

  • Elza Khusnutdinova

    (Institute of Biochemistry and Genetics Ufa Federal Research Centre of the Russian Academy of Sciences
    Division of Molecular Pathology The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital)

  • Johanna I. Kiiski

    (Department of Genetics and Fundamental Medicine Bashkir State Medical University)

  • Yon-Dschun Ko

    (Department of Obstetrics and Gynecology, Helsinki University Hospital University of Helsinki)

  • Veli-Matti Kosma

    (Evangelische Kliniken Bonn gGmbH Johanniter Krankenhaus
    Translational Cancer Research Area University of Eastern Finland
    Institute of Clinical Medicine, Pathology and Forensic Medicine University of Eastern Finland)

  • Peter Kraft

    (Department of Epidemiology Harvard TH Chan School of Public Health
    Program in Genetic Epidemiology and Statistical Genetics Harvard TH Chan School of Public Health Boston)

  • Allison W. Kurian

    (Division of Oncology, Stanford University School of Medicine
    Stanford University School of Medicine)

  • Yael Laitman

    (The Susanne Levy Gertner Oncogenetics Unit Chaim Sheba Medical Center)

  • Diether Lambrechts

    (VIB Center for Cancer Biology
    Laboratory for Translational Genetics, Department of Human Genetics University of Leuven)

  • Loic Marchand

    (Epidemiology Program University of Hawaii Cancer Center)

  • Jenny Lester

    (Faculty of Medicine University of Heidelberg
    David Geffen School of Medicine, Department of Obstetrics and Gynecology University of California at Los Angeles)

  • Fabienne Lesueur

    (Inserm, U900
    Institut Curie Paris
    Mines ParisTech Fontainebleau
    PSL University Paris)

  • Tricia Lindstrom

    (Department of Health Sciences Research, Mayo Clinic)

  • Adria Lopez-Fernández

    (High Risk and Cancer Prevention Group Vall d’Hebron Institute of Oncology)

  • Jennifer T. Loud

    (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute)

  • Craig Luccarini

    (Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge)

  • Arto Mannermaa

    (Evangelische Kliniken Bonn gGmbH Johanniter Krankenhaus
    Translational Cancer Research Area University of Eastern Finland
    Institute of Clinical Medicine, Pathology and Forensic Medicine University of Eastern Finland)

  • Siranoush Manoukian

    (Unit of Medical Genetics, Department of Medical Oncology and Hematology Fondazione IRCCS Istituto Nazionale dei Tumori di Milano)

  • Sara Margolin

    (Södersjukhuset
    Department of Clinical Science and Education, Södersjukhuset Karolinska Institutet)

  • John W. M. Martens

    (Family Cancer Clinic Erasmus MC Cancer Institute)

  • Noura Mebirouk

    (Inserm, U900
    Institut Curie Paris
    Mines ParisTech Fontainebleau
    PSL University Paris)

  • Alfons Meindl

    (Department of Gynecology and Obstetrics University of Munich, Campus Grosshadern)

  • Austin Miller

    (NRG Oncology, Statistics and Data Management Center Roswell Park Cancer Institute)

  • Roger L. Milne

    (Cancer Epidemiology Division Cancer Council Victoria
    The University of Melbourne
    Precision Medicine, School of Clinical Sciences at Monash Health Monash University)

  • Marco Montagna

    (Unit Veneto Institute of Oncology IOV – IRCCS)

  • Katherine L. Nathanson

    (Basser Center for BRCA, Abramson Cancer Center University of Pennsylvania)

  • Susan L. Neuhausen

    (Department of Population Sciences Beckman Research Institute of City of Hope)

  • Heli Nevanlinna

    (Department of Genetics and Fundamental Medicine Bashkir State Medical University)

  • Finn C. Nielsen

    (Copenhagen University Hospital)

  • Katie M. O’Brien

    (NIH Research Triangle Park)

  • Olufunmilayo I. Olopade

    (Center for Clinical Cancer Genetics The University of Chicago)

  • Janet E. Olson

    (Department of Health Sciences Research, Mayo Clinic)

  • Håkan Olsson

    (Clinical Sciences Lund University)

  • Ana Osorio

    (Human Cancer Genetics Programme Spanish National Cancer Research Centre (CNIO)
    Centro de Investigación en Red de Enfermedades Raras (CIBERER))

  • Laura Ottini

    (Department of Molecular Medicine University La Sapienza)

  • Tjoung-Won Park-Simon

    (Hannover Medical School)

  • Michael T. Parsons

    (Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute)

  • Inge Sokilde Pedersen

    (Molecular Diagnostics Aalborg University Hospital
    Clinical Cancer Research Center Aalborg University Hospital
    Department of Clinical Medicine Aalborg University)

  • Beth Peshkin

    (Lombardi Comprehensive Cancer Center, Georgetown University)

  • Paolo Peterlongo

    (Genome Diagnostics Program IFOM - the FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology)

  • Julian Peto

    (Department of Non-Communicable Disease Epidemiology London School of Hygiene and Tropical Medicine)

  • Paul D. P. Pharoah

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
    Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge)

  • Kelly-Anne Phillips

    (Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute
    The University of Melbourne
    Sir Peter MacCallum Department of Oncology The University of Melbourne)

  • Eric C. Polley

    (Department of Health Sciences Research, Mayo Clinic)

  • Bruce Poppe

    (Centre for Medical Genetics Ghent University)

  • Nadege Presneau

    (School of Life Sciences University of Westminster)

  • Miquel Angel Pujana

    (Translational Research Laboratory IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC)

  • Kevin Punie

    (University Hospitals Leuven)

  • Paolo Radice

    (Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research Fondazione IRCCS Istituto Nazionale dei Tumori (INT))

  • Johanna Rantala

    (Clinical Genetics Karolinska Institutet)

  • Muhammad U. Rashid

    (Molecular Genetics of Breast Cancer German Cancer Research Center (DKFZ)
    Department of Basic Sciences Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC))

  • Gad Rennert

    (Clalit National Cancer Control Center Carmel Medical Center and Technion Faculty of Medicine)

  • Hedy S. Rennert

    (Clalit National Cancer Control Center Carmel Medical Center and Technion Faculty of Medicine)

  • Mark Robson

    (Clinical Genetics Service, Department of Medicine Memorial Sloan-Kettering Cancer Center)

  • Atocha Romero

    (Medical Oncology Department Hospital Universitario Puerta de Hierro)

  • Maria Rossing

    (Copenhagen University Hospital)

  • Emmanouil Saloustros

    (Department of Oncology University Hospital of Larissa)

  • Dale P. Sandler

    (NIH Research Triangle Park)

  • Regina Santella

    (Mailman School of Public Health Columbia University)

  • Maren T. Scheuner

    (Cancer Genetics and Prevention Program University of California San Francisco)

  • Marjanka K. Schmidt

    (Womenís Cancer Program at the Samuel Oschin Comprehensive Cancer Institute Cedars-Sinai Medical Center
    Division of Psychosocial Research and Epidemiology The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital)

  • Gunnar Schmidt

    (Institute of Human Genetics Hannover Medical School)

  • Christopher Scott

    (Department of Health Sciences Research, Mayo Clinic)

  • Priyanka Sharma

    (Division of Medical Oncology University of Kansas Medical Center)

  • Penny Soucy

    (Genomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center)

  • Melissa C. Southey

    (Precision Medicine, School of Clinical Sciences at Monash Health Monash University
    Department of Clinical Pathology The University of Melbourne)

  • John J. Spinelli

    (Population Oncology BC Cancer
    School of Population and Public Health University of British Columbia)

  • Zoe Steinsnyder

    (Clinical Genetics Research Lab, Department of Cancer Biology and Genetics Memorial Sloan-Kettering Cancer Center)

  • Jennifer Stone

    (The University of Melbourne
    The Curtin UWA Centre for Genetic Origins of Health and Disease Curtin University and University of Western Australia)

  • Dominique Stoppa-Lyonnet

    (Service de Génétique Institut Curie
    Department of Tumour Biology INSERM U830
    Université Paris Descartes)

  • Anthony Swerdlow

    (Stanford University School of Medicine
    Division of Breast Cancer Research Institute of Cancer Research)

  • Rulla M. Tamimi

    (Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School
    Department of Epidemiology Harvard TH Chan School of Public Health
    Program in Genetic Epidemiology and Statistical Genetics Harvard TH Chan School of Public Health Boston)

  • William J. Tapper

    (Faculty of Medicine University of Southampton)

  • Jack A. Taylor

    (NIH Research Triangle Park
    Epigenetic and Stem Cell Biology Laboratory National Institute of Environmental Health Sciences, NIH Research Triangle Park)

  • Mary Beth Terry

    (Mailman School of Public Health Columbia University)

  • Alex Teulé

    (Hereditary Cancer Program ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC)

  • Darcy L. Thull

    (Department of Medicine Magee-Womens Hospital, University of Pittsburgh School of Medicine)

  • Marc Tischkowitz

    (Program in Cancer Genetics, Departments of Human Genetics and Oncology McGill University
    National Institute for Health Research Cambridge Biomedical Research Center, University of Cambridge)

  • Amanda E. Toland

    (Department of Cancer Biology and Genetics The Ohio State University)

  • Diana Torres

    (Molecular Genetics of Breast Cancer German Cancer Research Center (DKFZ)
    Institute of Human Genetics Pontificia Universidad Javeriana)

  • Alison H. Trainer

    (Parkville Familial Cancer Centre Peter MacCallum Cancer Center
    Department of medicine University Of Melbourne)

  • Thérèse Truong

    (University Paris-Sud, University Paris-Saclay)

  • Nadine Tung

    (Department of Medical Oncology Beth Israel Deaconess Medical Center)

  • Celine M. Vachon

    (Department of Health Science Research, Division of Epidemiology Mayo Clinic)

  • Ana Vega

    (Fundación Pública Galega Medicina Xenómica-SERGAS, Instituto de Investigación Sanitaria Santiago de Compostela (IDIS); CIBERER)

  • Joseph Vijai

    (Clinical Genetics Service, Department of Medicine Memorial Sloan-Kettering Cancer Center
    Clinical Genetics Research Lab, Department of Cancer Biology and Genetics Memorial Sloan-Kettering Cancer Center)

  • Qin Wang

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

  • Barbara Wappenschmidt

    (University of Cologne
    University of Cologne)

  • Clarice R. Weinberg

    (Biostatistics and Computational Biology Branch National Institute of Environmental Health Sciences, NIH Research Triangle Park)

  • Jeffrey N. Weitzel

    (Clinical Cancer Genomics City of Hope)

  • Camilla Wendt

    (Department of Clinical Science and Education, Södersjukhuset Karolinska Institutet)

  • Alicja Wolk

    (Institute of Environmental Medicine Karolinska Institutet
    Department of Surgical Sciences Uppsala University)

  • Siddhartha Yadav

    (Department of Oncology Mayo Clinic)

  • Xiaohong R. Yang

    (Division of Cancer Epidemiology and Genetics National Cancer Institute, National Institutes of Health, Department of Health and Human Services)

  • Drakoulis Yannoukakos

    (INRASTES National Centre for Scientific Research íDemokritosí)

  • Wei Zheng

    (Vanderbilt-Ingram Cancer Center Vanderbilt University School of Medicine)

  • Argyrios Ziogas

    (Genetic Epidemiology Research Institute University of California Irvine)

  • Kristin K. Zorn

    (University of Pittsburgh School of Medicine)

  • Sue K. Park

    (Department of Preventive Medicine Seoul National University College of Medicine
    Department of Biomedical Sciences Seoul National University Graduate School
    Cancer Research Institute Seoul National University)

  • Mads Thomassen

    (Department of Clinical Genetics Odense University Hospital)

  • Kenneth Offit

    (Clinical Genetics Service, Department of Medicine Memorial Sloan-Kettering Cancer Center
    Clinical Genetics Research Lab, Department of Cancer Biology and Genetics Memorial Sloan-Kettering Cancer Center)

  • Rita K. Schmutzler

    (University of Cologne
    University of Cologne)

  • Fergus J. Couch

    (Department of Laboratory Medicine and Pathology Mayo Clinic)

  • Jacques Simard

    (Genetic Epidemiology Research Institute University of California Irvine)

  • Georgia Chenevix-Trench

    (Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute)

  • Douglas F. Easton

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
    Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge)

  • Nadine Andrieu

    (Inserm, U900
    Institut Curie Paris
    Mines ParisTech Fontainebleau
    PSL University Paris)

  • Antonis C. Antoniou

    (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge)

Abstract

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P

Suggested Citation

  • Juliette Coignard & Michael Lush & Jonathan Beesley & Tracy A. O’Mara & Joe Dennis & Jonathan P. Tyrer & Daniel R. Barnes & Lesley McGuffog & Goska Leslie & Manjeet K. Bolla & Muriel A. Adank & Simona, 2021. "A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers," Nature Communications, Nature, vol. 12(1), pages 1-22, December.
  • Handle: RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-020-20496-3
    DOI: 10.1038/s41467-020-20496-3
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