Fachal L 1 , Aschard H 2 , Beesley J 3 , Barnes DR 4 , Allen J 4 , Kar S 1 Show all authors , Pooley KA 4 , Dennis J 4 , Michailidou K 4 , Turman C 5 , Soucy P 6 , Lemaçon A 6 , Lush M 4 , Tyrer JP 1 , Ghoussaini M 1 , Moradi Marjaneh M 3 , Jiang X 7 , Agata S 8 , Aittomäki K 9 , Alonso MR 10 , Andrulis IL 11 , Anton-Culver H 12 , Antonenkova NN 13 , Arason A 14 , Arndt V 15 , Aronson KJ 16 , Arun BK 17 , Auber B 18 , Auer PL 19 , Azzollini J 20 , Balmaña J 21 , Barkardottir RB 14 , Barrowdale D 4 , Beeghly-Fadiel A 22 , Benitez J 23 , Bermisheva M 24 , Białkowska K 25 , Blanco AM 26 , Blomqvist C 27 , Blot W 22 , Bogdanova NV 13 , Bojesen SE 28 , Bolla MK 4 , Bonanni B 29 , Borg A 30 , Bosse K 31 , Brauch H 32 , Brenner H 15 , Briceno I 33 , Brock IW 34 , Brooks-Wilson A 35 , Brüning T 36 , Burwinkel B 37 , Buys SS 38 , Cai Q 22 , Caldés T 39 , Caligo MA 40 , Camp NJ 41 , Campbell I 42 , Canzian F 43 , Carroll JS 44 , Carter BD 45 , Castelao JE 46 , Chiquette J 47 , Christiansen H 48 , Chung WK 49 , Claes KBM 50 , Clarke CL 51 , GEMO Study Collaborators , EMBRACE Collaborators , Collée JM 52 , Cornelissen S 53 , Couch FJ 54 , Cox A 34 , Cross SS 55 , Cybulski C 25 , Czene K 56 , Daly MB 57 , de la Hoya M 39 , Devilee P 58 , Diez O 59 , Ding YC 60 , Dite GS 61 , Domchek SM 62 , Dörk T 63 , Dos-Santos-Silva I 64 , Droit A 6 , Dubois S 6 , Dumont M 6 , Duran M 65 , Durcan L 66 , Dwek M 67 , Eccles DM 68 , Engel C 69 , Eriksson M 56 , Evans DG 70 , Fasching PA 71 , Fletcher O 72 , Floris G 73 , Flyger H 74 , Foretova L 75 , Foulkes WD 76 , Friedman E 77 , Fritschi L 78 , Frost D 4 , Gabrielson M 56 , Gago-Dominguez M 79 , Gambino G 40 , Ganz PA 80 , Gapstur SM 45 , Garber J 81 , García-Sáenz JA 82 , Gaudet MM 45 , Georgoulias V 83 , Giles GG 61 , Glendon G 11 , Godwin AK 84 , Goldberg MS 85 , Goldgar DE 86 , González-Neira A 87 , Tibiletti MG 88 , Greene MH 89 , Grip M 90 , Gronwald J 25 , Grundy A 91 , Guénel P 92 , Hahnen E 93 , Haiman CA 94 , Håkansson N 95 , Hall P 56 , Hamann U 96 , Harrington PA 1 , Hartikainen JM 97 , Hartman M 98 , He W 56 , Healey CS 1 , Heemskerk-Gerritsen BAM 99 , Heyworth J 100 , Hillemanns P 63 , Hogervorst FBL 101 , Hollestelle A 99 , Hooning MJ 99 , Hopper JL 61 , Howell A 102 , Huang G 96 , Hulick PJ 103 , Imyanitov EN 104 , KConFab Investigators , HEBON Investigators , ABCTB Investigators , Isaacs C 105 , Iwasaki M 106 , Jager A 99 , Jakimovska M 107 , Jakubowska A 25 , James PA 108 , Janavicius R 109 , Jankowitz RC 110 , John EM 111 , Johnson N 72 , Jones ME 112 , Jukkola-Vuorinen A 113 , Jung A 114 , Kaaks R 114 , Kang D 115 , Kapoor PM 114 , Karlan BY 116 , Keeman R 53 , Kerin MJ 117 , Khusnutdinova E 24 , Kiiski JI 118 , Kirk J 119 , Kitahara CM 120 , Ko YD 121 , Konstantopoulou I 122 , Kosma VM 97 , Koutros S 123 , Kubelka-Sabit K 124 , Kwong A 125 , Kyriacou K 126 , Laitman Y 77 , Lambrechts D 127 , Lee E 94 , Leslie G 4 , Lester J 116 , Lesueur F 128 , Lindblom A 129 , Lo WY 32 , Long J 22 , Lophatananon A 130 , Loud JT 89 , Lubiński J 25 , MacInnis RJ 61 , Maishman T 66 , Makalic E 61 , Mannermaa A 97 , Manoochehri M 96 , Manoukian S 20 , Margolin S 131 , Martinez ME 132 , Matsuo K 133 , Maurer T 134 , Mavroudis D 83 , Mayes R 1 , McGuffog L 4 , McLean C 135 , Mebirouk N 128 , Meindl A 136 , Miller A 137 , Miller N 117 , Montagna M 8 , Moreno F 82 , Muir K 130 , Mulligan AM 138 , Muñoz-Garzon VM 139 , Muranen TA 118 , Narod SA 140 , Nassir R 141 , Nathanson KL 62 , Neuhausen SL 60 , Nevanlinna H 118 , Neven P 73 , Nielsen FC 142 , Nikitina-Zake L 143 , Norman A 144 , Offit K 145 , Olah E 146 , Olopade OI 147 , Olsson H 148 , Orr N 149 , Osorio A 23 , Pankratz VS 150 , Papp J 146 , Park SK 115 , Park-Simon TW 63 , Parsons MT 3 , Paul J 151 , Pedersen IS 152 , Peissel B 20 , Peshkin B 105 , Peterlongo P 153 , Peto J 64 , Plaseska-Karanfilska D 107 , Prajzendanc K 25 , Prentice R 19 , Presneau N 67 , Prokofyeva D 154 , Pujana MA 155 , Pylkäs K 156 , Radice P 157 , Ramus SJ 158 , Rantala J 159 , Rau-Murthy R 160 , Rennert G 161 , Risch HA 162 , Robson M 160 , Romero A 163 , Rossing M 142 , Saloustros E 164 , Sánchez-Herrero E 163 , Sandler DP 165 , Santamariña M 23 , Saunders C 166 , Sawyer EJ 167 , Scheuner MT 26 , Schmidt DF 61 , Schmutzler RK 93 , Schneeweiss A 168 , Schoemaker MJ 112 , Schöttker B 15 , Schürmann P 63 , Scott C 144 , Scott RJ 169 , Senter L 170 , Seynaeve CM 99 , Shah M 1 , Sharma P 171 , Shen CY 172 , Shu XO 22 , Singer CF 173 , Slavin TP 174 , Smichkoska S 175 , Southey MC 176 , Spinelli JJ 177 , Spurdle AB 3 , Stone J 61 , Stoppa-Lyonnet D 178 , Sutter C 179 , Swerdlow AJ 112 , Tamimi RM 7 , Tan YY 180 , Tapper WJ 68 , Taylor JA 165 , Teixeira MR 181 , Tengström M 97 , Teo SH 182 , Terry MB 183 , Teulé A 184 , Thomassen M 185 , Thull DL 186 , Tischkowitz M 76 , Toland AE 187 , Tollenaar RAEM 188 , Tomlinson I 189 , Torres D 33 , Torres-Mejía G 190 , Troester MA 191 , Truong T 92 , Tung N 192 , Tzardi M 193 , Ulmer HU 194 , Vachon CM 195 , van Asperen CJ 196 , van der Kolk LE 101 , van Rensburg EJ 197 , Vega A 198 , Viel A 199 , Vijai J 145 , Vogel MJ 101 , Wang Q 4 , Wappenschmidt B 93 , Weinberg CR 200 , Weitzel JN 174 , Wendt C 201 , Wildiers H 73 , Winqvist R 156 , Wolk A 95 , Wu AH 94 , Yannoukakos D 122 , Zhang Y 15 , Zheng W 22 , Hunter D 202 , Pharoah PDP 1 , Chang-Claude J 114 , García-Closas M 123 , Schmidt MK 53 , Milne RL 61 , Kristensen VN 203 , French JD 3 , Edwards SL 3 , Antoniou AC 4 , Chenevix-Trench G 3 , Simard J 6 , Easton DF 1 , Kraft P 204 , Dunning AM 205

Affiliations 

  • 1 Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK
  • 2 Centre de Bioinformatique Biostatistique et Biologie Intégrative (C3BI), Institut Pasteur, Paris, France
  • 3 Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
  • 4 Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
  • 5 Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA
  • 6 Genomics Center, Centre Hospitalier Universitaire de Québec, Université Laval Research Center, Québec City, Québec, Canada
  • 7 Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA
  • 8 Immunology and Molecular Oncology Unit, Veneto Institute of Oncology (IOV), IRCCS, Padua, Italy
  • 9 Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  • 10 Human Genotyping-CEGEN Unit, Human Cancer Genetic Program, Spanish National Cancer Research Centre, Madrid, Spain
  • 11 Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
  • 12 Department of Epidemiology, Genetic Epidemiology Research Institute, University of California, Irvine, Irvine, CA, USA
  • 13 N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus
  • 14 Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland
  • 15 Division of Clinical Epidemiology and Aging Research (C070), German Cancer Research Center (DKFZ), Heidelberg, Germany
  • 16 Department of Public Health Sciences and Cancer Research Institute, Queen's University, Kingston, Ontario, Canada
  • 17 Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA
  • 18 Institute of Human Genetics, Hannover Medical School, Hannover, Germany
  • 19 Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
  • 20 Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy
  • 21 High Risk and Cancer Prevention Group, Vall Hebron Institute of Oncology, Barcelona, Spain
  • 22 Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA
  • 23 Centro de Investigación en Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
  • 24 Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia
  • 25 Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
  • 26 Cancer Genetics and Prevention Program, University of California, San Francisco, San Francisco, CA, USA
  • 27 Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  • 28 Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
  • 29 Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO), IRCCS, Milan, Italy
  • 30 Department of Oncology, Lund University and Skåne University Hospital, Lund, Sweden
  • 31 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
  • 32 Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany
  • 33 Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia
  • 34 Sheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK
  • 35 Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada
  • 36 Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany
  • 37 Molecular Epidemiology Group (C080), German Cancer Research Center (DKFZ), Heidelberg, Germany
  • 38 Department of Medicine, Huntsman Cancer Institute, Salt Lake City, UT, USA
  • 39 Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain
  • 40 SOD Genetica Molecolare, University Hospital, Pisa, Italy
  • 41 Department of Internal Medicine, Huntsman Cancer Institute, Salt Lake City, UT, USA
  • 42 Research Department, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia
  • 43 Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany
  • 44 Cancer Research UK Cambridge Institute, Li Ka Shing Centre, University of Cambridge, Cambridge, UK
  • 45 Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, USA
  • 46 Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain
  • 47 Axe Oncologie, Centre de Recherche, Centre Hospitalier Universitaire de Québec, Université Laval, Québec, Québec, Canada
  • 48 Department of Radiation Oncology, Hannover Medical School, Hannover, Germany
  • 49 Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA
  • 50 Centre for Medical Genetics, Ghent University, Ghent, Belgium
  • 51 Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia
  • 52 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands
  • 53 Division of Molecular Pathology, Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands
  • 54 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
  • 55 Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK
  • 56 Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
  • 57 Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA
  • 58 Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands
  • 59 Oncogenetics Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain
  • 60 Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA
  • 61 Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia
  • 62 Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA
  • 63 Gynaecology Research Unit, Hannover Medical School, Hannover, Germany
  • 64 Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK
  • 65 Cáncer Hereditario, Instituto de Biología y Genética Molecular (IBGM), Universidad de Valladolid Centro Superior de Investigaciones Científicas (UVA-CSIC), Valladolid, Spain
  • 66 Southampton Clinical Trials Unit, Faculty of Medicine, University of Southampton, Southampton, UK
  • 67 School of Life Sciences, University of Westminster, London, UK
  • 68 Faculty of Medicine, University of Southampton, Southampton, UK
  • 69 Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
  • 70 Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK
  • 71 David Geffen School of Medicine, Department of Medicine, Division of Hematology and Oncology, University of California, Los Angeles, Los Angeles, CA, USA
  • 72 Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK
  • 73 Leuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium
  • 74 Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
  • 75 Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic
  • 76 Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, Québec, Canada
  • 77 The Suzanne Levy-Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel
  • 78 School of Public Health, Curtin University, Perth, Western Australia, Australia
  • 79 Genomic Medicine Group, Galician Foundation of Genomic Medicine, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain
  • 80 Schools of Medicine and Public Health, Division of Cancer Prevention and Control Research, Jonsson Comprehensive Cancer Centre, University of California, Los Angeles, Los Angeles, CA, USA
  • 81 Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA, USA
  • 82 Medical Oncology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain
  • 83 Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece
  • 84 Department of Pathology and Laboratory Medicine, Kansas University Medical Center, Kansas City, KS, USA
  • 85 Department of Medicine, McGill University, Montréal, Québec, Canada
  • 86 Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA
  • 87 Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
  • 88 U.O. Anatomia Patologica Ospedale di Circolo, ASST Settelaghi, Varese, Italy
  • 89 Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
  • 90 Department of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland
  • 91 Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal, Montréal, Québec, Canada
  • 92 Cancer and Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Paris, France
  • 93 Center for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
  • 94 Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA
  • 95 Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
  • 96 Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany
  • 97 Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland
  • 98 Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore
  • 99 Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, the Netherlands
  • 100 School of Population and Global Health, The University of Western Australia, Perth, Western Australia, Australia
  • 101 Family Cancer Clinic, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands
  • 102 Division of Cancer Sciences, University of Manchester, Manchester, UK
  • 103 Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA
  • 104 N.N. Petrov Institute of Oncology, St. Petersburg, Russia
  • 105 Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA
  • 106 Division of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan
  • 107 Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia
  • 108 Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia
  • 109 Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania
  • 110 Department of Medicine, Division of Hematology/Oncology, UPMC Hillman Cancer Center, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
  • 111 Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA
  • 112 Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK
  • 113 Department of Oncology, Tampere University Hospital, Tampere University and Tampere Cancer Center, Tampere, Finland
  • 114 Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany
  • 115 Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea
  • 116 David Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, Los Angeles, CA, USA
  • 117 Surgery, School of Medicine, National University of Ireland, Galway, Ireland
  • 118 Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  • 119 Familial Cancer Service, Weatmead Hospital, Sydney, New South Wales, Australia
  • 120 Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
  • 121 Department of Internal Medicine, Evangelische Kliniken Bonn, Johanniter Krankenhaus, Bonn, Germany
  • 122 Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece
  • 123 Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
  • 124 Department of Histopathology and Cytology, Clinical Hospital 'Acibadem Sistina', Skopje, Republic of North Macedonia
  • 125 Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Centre, Happy Valley, Hong Kong
  • 126 Department of Electron Microscopy/Molecular Pathology and The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
  • 127 VIB Center for Cancer Biology, VIB, Leuven, Belgium
  • 128 Institut Curie, Paris, France
  • 129 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
  • 130 Division of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK
  • 131 Department of Oncology, Södersjukhuset, Stockholm, Sweden
  • 132 Moores Cancer Center, University of California, San Diego, La Jolla, CA, USA
  • 133 Division of Cancer Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan
  • 134 Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • 135 Anatomical Pathology, The Alfred Hospital, Melbourne, Victoria, Australia
  • 136 Department of Gynecology and Obstetrics, University of Munich, Munich, Germany
  • 137 NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, NY, USA
  • 138 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
  • 139 Radiation Oncology, Hospital Meixoeiro-XXI de Vigo, Vigo, Spain
  • 140 Women's College Research Institute, University of Toronto, Toronto, Ontario, Canada
  • 141 Department of Pathology, School of Medicine, Umm Al-Qura University, Holy Makkah, Saudi Arabia
  • 142 Center for Genomic Medicine at Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
  • 143 Latvian Biomedical Research and Study Centre, Riga, Latvia
  • 144 Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA
  • 145 Clinical Genetics Research Laboratory, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA
  • 146 Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary
  • 147 Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA
  • 148 Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden
  • 149 Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, UK
  • 150 University of New Mexico Health Sciences Center, University of New Mexico, Albuquerque, NM, USA
  • 151 Cancer Research UK Clinical Trials Unit, Institute of Cancer Sciences, University of Glasgow, Glasgow, UK
  • 152 Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark
  • 153 Genome Diagnostics Program, IFOM-the FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy
  • 154 Department of Genetics and Fundamental Medicine, Bashkir State Medical University, Ufa, Russia
  • 155 ProCURE, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain
  • 156 Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland
  • 157 Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy
  • 158 School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia
  • 159 Clinical Genetics, Karolinska Institutet, Stockholm, Sweden
  • 160 Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
  • 161 Clalit National Israeli Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel
  • 162 Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, USA
  • 163 Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain
  • 164 Department of Oncology, University Hospital of Larissa, Larissa, Greece
  • 165 Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA
  • 166 School of Medicine, University of Western Australia, Perth, Western Australia, Australia
  • 167 Research Oncology, Guy's Hospital, King's College London, London, UK
  • 168 Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany
  • 169 Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia
  • 170 Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA
  • 171 Department of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, KS, USA
  • 172 Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan
  • 173 Department of Obstetrics and Gynecology and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria
  • 174 Clinical Cancer Genomics, City of Hope, Duarte, CA, USA
  • 175 University Clinic of Radiotherapy and Oncology, Medical Faculty, Ss. Cyril and Methodius University in Skopje, Skopje, Republic of North Macedonia
  • 176 Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Victoria, Australia
  • 177 Population Oncology, BC Cancer, Vancouver, British Columbia, Canada
  • 178 Department of Tumour Biology, INSERM U830, Paris, France
  • 179 Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany
  • 180 Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria
  • 181 Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
  • 182 Breast Cancer Research Programme, Cancer Research Malaysia, Kuala Lumpur, Malaysia
  • 183 Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA
  • 184 Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain
  • 185 Department of Clinical Genetics, Odense University Hospital, Odence, Denmark
  • 186 Department of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
  • 187 Department of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, USA
  • 188 Department of Surgery, Leiden University Medical Center, Leiden, the Netherlands
  • 189 Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK
  • 190 Center for Population Health Research, National Institute of Public Health, Cuernavaca, Mexico
  • 191 Department of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
  • 192 Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA
  • 193 Department of Pathology, University Hospital of Heraklion, Heraklion, Greece
  • 194 Frauenklinik der Stadtklinik Baden-Baden, Baden-Baden, Germany
  • 195 Department of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA
  • 196 Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
  • 197 Department of Genetics, University of Pretoria, Pretoria, South Africa
  • 198 Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain
  • 199 Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy
  • 200 Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, USA
  • 201 Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden
  • 202 Nuffield Department of Population Health, University of Oxford, Oxford, UK
  • 203 Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway
  • 204 Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. pkraft@hsph.harvard.edu
  • 205 Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK. amd24@medschl.cam.ac.uk
Nat. Genet., 2020 01;52(1):56-73.
PMID: 31911677 DOI: 10.1038/s41588-019-0537-1

Abstract

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.