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Research Article

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

  • Mia M. Gaudet equal contributor,

    equal contributor Contributed equally to this work with: Mia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn

    Affiliation: Department of Epidemiology and Population Health and Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine, New York, New York, United States of America

    X
  • Tomas Kirchhoff equal contributor,

    equal contributor Contributed equally to this work with: Mia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn

    Affiliations: Clinical Genetics Service, Department of Medicine, Sloan-Kettering Institute, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America, Cancer Biology and Genetics Program, Sloan-Kettering Institute, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America

    X
  • Todd Green equal contributor,

    equal contributor Contributed equally to this work with: Mia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn

    Affiliation: Broad Institute of Harvard and Massachusetts Institute of Technology, Harvard Medical School, Boston, Massachusetts, United States of America

    X
  • Joseph Vijai equal contributor,

    equal contributor Contributed equally to this work with: Mia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn

    Affiliation: Clinical Genetics Service, Department of Medicine, Sloan-Kettering Institute, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America

    X
  • Joshua M. Korn equal contributor,

    equal contributor Contributed equally to this work with: Mia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn

    Affiliation: Broad Institute of Harvard and Massachusetts Institute of Technology, Harvard Medical School, Boston, Massachusetts, United States of America

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  • Candace Guiducci,

    Affiliation: Broad Institute of Harvard and Massachusetts Institute of Technology, Harvard Medical School, Boston, Massachusetts, United States of America

    X
  • Ayellet V. Segrè,

    Affiliations: Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, United States of America

    X
  • Kate McGee,

    Affiliation: Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute – Frederick, Frederick, Maryland, United States of America

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  • Lesley McGuffog,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

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  • Christiana Kartsonaki,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

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  • Jonathan Morrison,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

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  • Sue Healey,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

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  • Olga M. Sinilnikova,

    Affiliations: Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard, Lyon, France, Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France

    X
  • Dominique Stoppa-Lyonnet,

    Affiliations: Institut Curie, Service de Génétique, INSERM U830, F-75248, Université Paris Descartes, Paris, France, Service de Genetique Oncologique, Institut Curie, Paris, France

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  • Sylvie Mazoyer,

    Affiliation: Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France

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  • Marion Gauthier-Villars,

    Affiliation: Service de Genetique Oncologique, Institut Curie, Paris, France

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  • Hagay Sobol,

    Affiliation: Département Oncologie génétique, Prévention et Dépistage, INSERM CIC-P9502, Institut Paoli-Calmettes/Université d'Aix-Marseille II, Marseille, France

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  • Michel Longy,

    Affiliation: Institut Bergonié, Bordeaux, France

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  • Marc Frenay,

    Affiliation: Centre Antoine Lacassagne, Nice, France

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  • GEMO Study Collaborators ,

    Affiliation: GEMO Study - Cancer Genetics Network “Groupe Génétique et Cancer”, Fédération Nationale des Centres de Lutte Contre le Cancer, Paris, France

    Membership of each consortium is provided in the Acknowledgements.

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  • Frans B. L. Hogervorst,

    Affiliation: Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands

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  • Matti A. Rookus,

    Affiliation: Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands

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  • J. Margriet Collée,

    Affiliation: Department of Medical Oncology, Rotterdam Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands

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  • Nicoline Hoogerbrugge,

    Affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

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  • Kees E. P. van Roozendaal,

    Affiliation: Department of Clinical Genetics, University Medical Center, Maastricht, The Netherlands

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  • HEBON Study Collaborators ,

    Affiliation: Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands

    Membership of each consortium is provided in the Acknowledgements.

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  • Marion Piedmonte,

    Affiliation: Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America

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  • Wendy Rubinstein,

    Affiliation: NorthShore University Health System, Evanston, Illinois, United States of America

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  • Stacy Nerenstone,

    Affiliation: Central Connecticut Cancer Consortium, Hartford Hospital, Hartford, Connecticut, United States of America

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  • Linda Van Le,

    Affiliation: University of North Carolina, Chapel Hill, North Carolina, United States of America

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  • Stephanie V. Blank,

    Affiliation: New York University School of Medicine, New York, New York, United States of America

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  • Trinidad Caldés,

    Affiliation: Molecular Oncology Laboratory, Hospital Clinico San Carlos, Madrid, Spain

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  • Miguel de la Hoya,

    Affiliation: Molecular Oncology Laboratory, Hospital Clinico San Carlos, Madrid, Spain

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  • Heli Nevanlinna,

    Affiliation: Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland

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  • Kristiina Aittomäki,

    Affiliation: Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland

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  • Conxi Lazaro,

    Affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain

    X
  • Ignacio Blanco,

    Affiliation: Hereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Spain

    X
  • Adalgeir Arason,

    Affiliations: Department of Oncology, Landspitali–LSH, Reykjavik, Iceland, Department of Pathology, Landspitali–LSH, Reykjavik, Iceland, Faculty of Medicine, University of Iceland, Reykjavik, Iceland

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  • Oskar T. Johannsson,

    Affiliations: Department of Oncology, Landspitali–LSH, Reykjavik, Iceland, Faculty of Medicine, University of Iceland, Reykjavik, Iceland

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  • Rosa B. Barkardottir,

    Affiliations: Department of Oncology, Landspitali–LSH, Reykjavik, Iceland, Department of Pathology, Landspitali–LSH, Reykjavik, Iceland, Faculty of Medicine, University of Iceland, Reykjavik, Iceland

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  • Peter Devilee,

    Affiliation: Department of Human Genetics and Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands

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  • Olofunmilayo I. Olopade,

    Affiliation: Center for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago Medical Center, Chicago, Illinois, United States of America

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  • Susan L. Neuhausen,

    Affiliation: Department of Population Sciences, the Beckman Research Institute of the City of Hope, Duarte, California, United States of America

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  • Xianshu Wang,

    Affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America

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  • Zachary S. Fredericksen,

    Affiliation: Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America

    X
  • Paolo Peterlongo,

    Affiliations: Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy, IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy

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  • Siranoush Manoukian,

    Affiliation: Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy

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  • Monica Barile,

    Affiliation: Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy

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  • Alessandra Viel,

    Affiliation: Division of Experimental Oncology 1, Centro di Riferimento Oncologico (CRO), IRCCS, Aviano (PN), Italy

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  • Paolo Radice,

    Affiliation: IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy

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  • Catherine M. Phelan,

    Affiliation: Moffitt Cancer Center, Tampa, Florida, United States of America

    X
  • Steven Narod,

    Affiliation: Women's College Research Institute, Toronto, Canada

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  • Gad Rennert,

    Affiliation: CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel

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  • Flavio Lejbkowicz,

    Affiliation: CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel

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  • Anath Flugelman,

    Affiliation: CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center, Haifa, Israel

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  • Irene L. Andrulis,

    Affiliations: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada, Cancer Care Ontario, Ontario Cancer Genetics Network, University of Toronto, Toronto, Canada

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  • Gord Glendon,

    Affiliation: Cancer Care Ontario, Ontario Cancer Genetics Network, University of Toronto, Toronto, Canada

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  • Hilmi Ozcelik,

    Affiliations: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada, Cancer Care Ontario, Ontario Cancer Genetics Network, University of Toronto, Toronto, Canada

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  • OCGN ,

    Affiliation: Cancer Care Ontario, Ontario Cancer Genetics Network, University of Toronto, Toronto, Canada

    Membership of each consortium is provided in the Acknowledgements.

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  • Amanda E. Toland,

    Affiliation: Departments of Molecular Virology, Immunology, and Medical Genetics and Internal Medicine, Ohio State University, Columbus, Ohio, United States of America

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  • Marco Montagna,

    Affiliation: Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto, IRCCS, Padua, Italy

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  • Emma D'Andrea,

    Affiliations: Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto, IRCCS, Padua, Italy, Department of Oncology and Surgical Sciences, University of Padua, Padua, Italy

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  • Eitan Friedman,

    Affiliation: The Susan Levy Gertner Oncogenetics Unit, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel

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  • Yael Laitman,

    Affiliation: The Susan Levy Gertner Oncogenetics Unit, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel

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  • Ake Borg,

    Affiliation: Department of Oncology, Lund University, Lund, Sweden

    X
  • Mary Beattie,

    Affiliation: Division of General Internal Medicine, Department of Medicine, University of California San Francisco, San Francisco, California, United States of America

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  • Susan J. Ramus,

    Affiliation: Gynaecological Oncology Unit, UCL EGA Institute for Women's Health, University College London, United Kingdom

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  • Susan M. Domchek,

    Affiliation: Department of Oncology, The Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

    X
  • Katherine L. Nathanson,

    Affiliation: Department of Cell and Molecular Biology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

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  • Tim Rebbeck,

    Affiliation: Center for Clinical Epidemiology and Biostatistics, Department of Biostatistics and Epidemiology, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

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  • Amanda B. Spurdle,

    Affiliation: Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia

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  • Xiaoqing Chen,

    Affiliation: Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia

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  • Helene Holland,

    Affiliation: Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia

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  • kConFab,

    Affiliation: Peter MacCallum Cancer Centre, Melbourne, Australia

    X
  • Esther M. John,

    Affiliation: Cancer Prevention Institute of California, Fremont, California, United States of America

    X
  • John L. Hopper,

    Affiliation: Centre for Genetic Epidemiology, University of Melbourne, Melbourne, Australia

    X
  • Saundra S. Buys,

    Affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, United States of America

    X
  • Mary B. Daly,

    Affiliation: Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America

    X
  • Melissa C. Southey,

    Affiliation: Centre for Genetic Epidemiology, University of Melbourne, Melbourne, Australia

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  • Mary Beth Terry,

    Affiliation: Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, United States of America

    X
  • Nadine Tung,

    Affiliation: Division of Hematology-Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, United States of America

    X
  • Thomas V. Overeem Hansen,

    Affiliation: Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospitalet, Copenhagen, Denmark

    X
  • Finn C. Nielsen,

    Affiliation: Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospitalet, Copenhagen, Denmark

    X
  • Mark I. Greene,

    Affiliation: Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland, United States of America

    X
  • Phuong L. Mai,

    Affiliation: Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland, United States of America

    X
  • Ana Osorio,

    Affiliation: Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain

    X
  • Mercedes Durán,

    Affiliation: Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain

    X
  • Raquel Andres,

    Affiliation: Oncology Service, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain

    X
  • Javier Benítez,

    Affiliation: Human Genetics Group and Genotyping Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain

    X
  • Jeffrey N. Weitzel,

    Affiliation: City of Hope Cancer Center, Duarte, California, United States of America

    X
  • Judy Garber,

    Affiliation: Dana Farber Cancer Institute, Harvard University, Boston, Massachusetts, United States of America

    X
  • Ute Hamann,

    Affiliation: Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany

    X
  • Susan Peock,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

    X
  • Margaret Cook,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

    X
  • Clare Oliver,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

    X
  • Debra Frost,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

    X
  • Radka Platte,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

    X
  • D. Gareth Evans,

    Affiliation: Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom

    X
  • Fiona Lalloo,

    Affiliation: Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom

    X
  • Ros Eeles,

    Affiliation: Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom

    X
  • Louise Izatt,

    Affiliation: Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom

    X
  • Lisa Walker,

    Affiliation: Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom

    X
  • Jacqueline Eason,

    Affiliation: Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom

    X
  • Julian Barwell,

    Affiliation: Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom

    X
  • Andrew K. Godwin,

    Affiliation: Women's Cancer Program, Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America

    X
  • Rita K. Schmutzler,

    Affiliation: Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany

    X
  • Barbara Wappenschmidt,

    Affiliation: Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany

    X
  • Stefanie Engert,

    Affiliation: Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany

    X
  • Norbert Arnold,

    Affiliation: Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Kiel, Germany

    X
  • Dorothea Gadzicki,

    Affiliation: Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany

    X
  • Michael Dean,

    Affiliation: Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute – Frederick, Frederick, Maryland, United States of America

    X
  • Bert Gold,

    Affiliation: Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute – Frederick, Frederick, Maryland, United States of America

    X
  • Robert J. Klein,

    Affiliation: Program in Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America

    X
  • Fergus J. Couch,

    Affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America

    X
  • Georgia Chenevix-Trench,

    Affiliation: Peter MacCallum Cancer Centre, Melbourne, Australia

    X
  • Douglas F. Easton,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

    X
  • Mark J. Daly,

    Affiliation: Broad Institute of Harvard and Massachusetts Institute of Technology, Harvard Medical School, Boston, Massachusetts, United States of America

    X
  • Antonis C. Antoniou,

    Affiliation: Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

    X
  • David M. Altshuler,

    Affiliation: Broad Institute of Harvard and Massachusetts Institute of Technology, Harvard Medical School, Boston, Massachusetts, United States of America

    X
  • Kenneth Offit mail

    offitk@mskcc.org

    Affiliation: Clinical Genetics Service, Department of Medicine, Sloan-Kettering Institute, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America

    X
  • Published: October 28, 2010
  • DOI: 10.1371/journal.pgen.1001183

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