Fulltext

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne RL 1 , Kuchenbaecker KB 2 , Michailidou K 2 , Beesley J 3 , Kar S 4 , Lindström S 5 Show all authors , Hui S 6 , Lemaçon A 7 , Soucy P 7 , Dennis J 2 , Jiang X 8 , Rostamianfar A 6 , Finucane H 8 , Bolla MK 2 , McGuffog L 2 , Wang Q 2 , Aalfs CM 9 , ABCTB Investigators , Adams M 10 , Adlard J 11 , Agata S 12 , Ahmed S 4 , Ahsan H 13 , Aittomäki K 14 , Al-Ejeh F 15 , Allen J 2 , Ambrosone CB 16 , Amos CI 17 , Andrulis IL 18 , Anton-Culver H 19 , Antonenkova NN 20 , Arndt V 21 , Arnold N 22 , Aronson KJ 23 , Auber B 24 , Auer PL 25 , Ausems MGEM 26 , Azzollini J 27 , Bacot F 28 , Balmaña J 29 , Barile M 30 , Barjhoux L 31 , Barkardottir RB 32 , Barrdahl M 33 , Barnes D 2 , Barrowdale D 2 , Baynes C 4 , Beckmann MW 34 , Benitez J 35 , Bermisheva M 36 , Bernstein L 37 , Bignon YJ 38 , Blazer KR 39 , Blok MJ 40 , Blomqvist C 41 , Blot W 42 , Bobolis K 43 , Boeckx B 44 , Bogdanova NV 20 , Bojesen A 45 , Bojesen SE 46 , Bonanni B 30 , Børresen-Dale AL 47 , Bozsik A 48 , Bradbury AR 49 , Brand JS 50 , Brauch H 51 , Brenner H 21 , Bressac-de Paillerets B 52 , Brewer C 53 , Brinton L 54 , Broberg P 55 , Brooks-Wilson A 56 , Brunet J 57 , Brüning T 58 , Burwinkel B 59 , Buys SS 60 , Byun J 17 , Cai Q 42 , Caldés T 61 , Caligo MA 62 , Campbell I 63 , Canzian F 64 , Caron O 52 , Carracedo A 65 , Carter BD 66 , Castelao JE 67 , Castera L 68 , Caux-Moncoutier V 69 , Chan SB , Chang-Claude J 33 , Chanock SJ 54 , Chen X 3 , Cheng TD 70 , Chiquette J 71 , Christiansen H 72 , Claes KBM 73 , Clarke CL 74 , Conner T 75 , Conroy DM 4 , Cook J 76 , Cordina-Duverger E 77 , Cornelissen S 78 , Coupier I 79 , Cox A 80 , Cox DG 81 , Cross SS 82 , Cuk K 21 , Cunningham JM 83 , Czene K 50 , Daly MB 84 , Damiola F 31 , Darabi H 50 , Davidson R 85 , De Leeneer K 73 , Devilee P 86 , Dicks E 4 , Diez O 87 , Ding YC 37 , Ditsch N 88 , Doheny KF 10 , Domchek SM 49 , Dorfling CM 89 , Dörk T 90 , Dos-Santos-Silva I 91 , Dubois S 7 , Dugué PA 1 , Dumont M 7 , Dunning AM 4 , Durcan L 92 , Dwek M 93 , Dworniczak B 94 , Eccles D 95 , Eeles R 96 , Ehrencrona H 97 , Eilber U 33 , Ejlertsen B 98 , Ekici AB 99 , Eliassen AH 100 , EMBRACE , Engel C 101 , Eriksson M 50 , Fachal L 4 , Faivre L 102 , Fasching PA 34 , Faust U 103 , Figueroa J 54 , Flesch-Janys D 104 , Fletcher O 105 , Flyger H 106 , Foulkes WD 107 , Friedman E 108 , Fritschi L 109 , Frost D 2 , Gabrielson M 50 , Gaddam P 110 , Gammon MD 111 , Ganz PA 112 , Gapstur SM 66 , Garber J 113 , Garcia-Barberan V 61 , García-Sáenz JA 61 , Gaudet MM 66 , Gauthier-Villars M 69 , Gehrig A 114 , GEMO Study Collaborators , Georgoulias V 115 , Gerdes AM 116 , Giles GG 1 , Glendon G 18 , Godwin AK 117 , Goldberg MS 118 , Goldgar DE 119 , González-Neira A 35 , Goodfellow P 120 , Greene MH 121 , Alnæs GIG 47 , Grip M 122 , Gronwald J 123 , Grundy A 124 , Gschwantler-Kaulich D 125 , Guénel P 77 , Guo Q 126 , Haeberle L 34 , Hahnen E 127 , Haiman CA 128 , Håkansson N 129 , Hallberg E 130 , Hamann U 131 , Hamel N 28 , Hankinson S 132 , Hansen TVO 133 , Harrington P 4 , Hart SN 130 , Hartikainen JM 134 , Healey CS 4 , HEBON , Hein A 34 , Helbig S 90 , Henderson A 135 , Heyworth J 136 , Hicks B 137 , Hillemanns P 90 , Hodgson S 138 , Hogervorst FB 139 , Hollestelle A 140 , Hooning MJ 140 , Hoover B 54 , Hopper JL 141 , Hu C 83 , Huang G 131 , Hulick PJ 142 , Humphreys K 50 , Hunter DJ 8 , Imyanitov EN 143 , Isaacs C 144 , Iwasaki M 145 , Izatt L 146 , Jakubowska A 123 , James P 147 , Janavicius R 148 , Janni W 149 , Jensen UB 150 , John EM 151 , Johnson N 105 , Jones K 137 , Jones M 152 , Jukkola-Vuorinen A 153 , Kaaks R 33 , Kabisch M 131 , Kaczmarek K 123 , Kang D 154 , Kast K 155 , kConFab/AOCS Investigators , Keeman R 78 , Kerin MJ 156 , Kets CM 157 , Keupers M 158 , Khan S 159 , Khusnutdinova E 36 , Kiiski JI 159 , Kim SW 125 , Knight JA 160 , Konstantopoulou I 161 , Kosma VM 134 , Kristensen VN 47 , Kruse TA 162 , Kwong A 163 , Lænkholm AV 164 , Laitman Y 108 , Lalloo F 165 , Lambrechts D 44 , Landsman K 166 , Lasset C 167 , Lazaro C 168 , Le Marchand L 169 , Lecarpentier J 2 , Lee A 2 , Lee E 128 , Lee JW 170 , Lee MH 171 , Lejbkowicz F 166 , Lesueur F 172 , Li J 50 , Lilyquist J 173 , Lincoln A 174 , Lindblom A 175 , Lissowska J 176 , Lo WY 51 , Loibl S 177 , Long J 42 , Loud JT 121 , Lubinski J 123 , Luccarini C 4 , Lush M 2 , MacInnis RJ 1 , Maishman T 92 , Makalic E 141 , Kostovska IM 178 , Malone KE 179 , Manoukian S 27 , Manson JE 180 , Margolin S 181 , Martens JWM 140 , Martinez ME 182 , Matsuo K 183 , Mavroudis D 115 , Mazoyer S 184 , McLean C 185 , Meijers-Heijboer H 9 , Menéndez P 186 , Meyer J 83 , Miao H 187 , Miller A 188 , Miller N 156 , Mitchell G 147 , Montagna M 12 , Muir K 189 , Mulligan AM 190 , Mulot C 191 , Nadesan S 43 , Nathanson KL 49 , NBSC Collaborators , Neuhausen SL 37 , Nevanlinna H 159 , Nevelsteen I 158 , Niederacher D 192 , Nielsen SF 46 , Nordestgaard BG 46 , Norman A 130 , Nussbaum RL 193 , Olah E 48 , Olopade OI 194 , Olson JE 130 , Olswold C 130 , Ong KR 195 , Oosterwijk JC 196 , Orr N 105 , Osorio A 197 , Pankratz VS 198 , Papi L 199 , Park-Simon TW 90 , Paulsson-Karlsson Y 200 , Lloyd R 201 , Pedersen IS 202 , Peissel B 27 , Peixoto A 203 , Perez JIA 204 , Peterlongo P 205 , Peto J 91 , Pfeiler G 126 , Phelan CM 206 , Pinchev M 166 , Plaseska-Karanfilska D 178 , Poppe B 73 , Porteous ME 207 , Prentice R 25 , Presneau N 93 , Prokofieva D 208 , Pugh E 10 , Pujana MA 209 , Pylkäs K 210 , Rack B 88 , Radice P 211 , Rahman N 212 , Rantala J 213 , Rappaport-Fuerhauser C 125 , Rennert G 166 , Rennert HS 166 , Rhenius V 4 , Rhiem K 127 , Richardson A 214 , Rodriguez GC 215 , Romero A 61 , Romm J 10 , Rookus MA 216 , Rudolph A 33 , Ruediger T 217 , Saloustros E 218 , Sanders J 219 , Sandler DP 220 , Sangrajrang S 221 , Sawyer EJ 222 , Schmidt DF 141 , Schoemaker MJ 152 , Schumacher F 223 , Schürmann P 90 , Schwentner L 149 , Scott C 130 , Scott RJ 224 , Seal S 212 , Senter L 225 , Seynaeve C 140 , Shah M 4 , Sharma P 226 , Shen CY 227 , Sheng X 128 , Shimelis H 83 , Shrubsole MJ 42 , Shu XO 42 , Side LE 228 , Singer CF 125 , Sohn C 229 , Southey MC 230 , Spinelli JJ 231 , Spurdle AB 3 , Stegmaier C 232 , Stoppa-Lyonnet D 69 , Sukiennicki G 123 , Surowy H 59 , Sutter C 233 , Swerdlow A 152 , Szabo CI 234 , Tamimi RM 8 , Tan YY 125 , Taylor JA 220 , Tejada MI 235 , Tengström M 134 , Teo SH 236 , Terry MB 237 , Tessier DC 28 , Teulé A 238 , Thöne K 239 , Thull DL 240 , Tibiletti MG 241 , Tihomirova L 242 , Tischkowitz M 107 , Toland AE 243 , Tollenaar RAEM 244 , Tomlinson I 245 , Tong L 13 , Torres D 131 , Tranchant M 7 , Truong T 77 , Tucker K 246 , Tung N 247 , Tyrer J 4 , Ulmer HU 248 , Vachon C 130 , van Asperen CJ 249 , Van Den Berg D 128 , van den Ouweland AMW 250 , van Rensburg EJ 89 , Varesco L 251 , Varon-Mateeva R 252 , Vega A 253 , Viel A 254 , Vijai J 174 , Vincent D 28 , Vollenweider J 83 , Walker L 255 , Wang Z 54 , Wang-Gohrke S 149 , Wappenschmidt B 127 , Weinberg CR 256 , Weitzel JN 39 , Wendt C 181 , Wesseling J 78 , Whittemore AS 257 , Wijnen JT 258 , Willett W 259 , Winqvist R 210 , Wolk A 129 , Wu AH 128 , Xia L 128 , Yang XR 54 , Yannoukakos D 161 , Zaffaroni D 27 , Zheng W 42 , Zhu B 137 , Ziogas A 19 , Ziv E 260 , Zorn KK 241 , Gago-Dominguez M 65 , Mannermaa A 134 , Olsson H 55 , Teixeira MR 203 , Stone J 201 , Offit K 261 , Ottini L 262 , Park SK 154 , Thomassen M 162 , Hall P 50 , Meindl A 263 , Schmutzler RK 127 , Droit A 7 , Bader GD 6 , Pharoah PDP 2 , Couch FJ 83 , Easton DF 2 , Kraft P 8 , Chenevix-Trench G 3 , García-Closas M 54 , Schmidt MK 78 , Antoniou AC 2 , Simard J 7

Affiliations 

  • 1 Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, Victoria, Australia
  • 2 Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
  • 3 Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
  • 4 Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK
  • 5 Department of Epidemiology, University of Washington School of Public Health, Seattle, Washington, USA
  • 6 Donnelly Centre, University of Toronto, Toronto, Ontario, Canada
  • 7 Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada
  • 8 Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA
  • 9 Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands
  • 10 Center for Inherited Disease Research (CIDR), Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
  • 11 Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK
  • 12 Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), IRCCS, Padua, Italy
  • 13 Center for Cancer Epidemiology and Prevention, University of Chicago, Chicago, Illinois, USA
  • 14 Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  • 15 Personalised Medicine Team, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
  • 16 Roswell Park Cancer Institute, Buffalo, New York, USA
  • 17 Center for Genomic Medicine, Department of Biomedical Data Science, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire, USA
  • 18 Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada
  • 19 Department of Epidemiology, University of California, Irvine, Irvine, California, USA
  • 20 N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus
  • 21 Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany
  • 22 Institute of Clinical Molecular Biology / Department of Gynecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany
  • 23 Department of Public Health Sciences and Cancer Research Institute, Queen's University, Kingston, Ontario, Canada
  • 24 Institute of Human Genetics, Hannover Medical School, Hannover, Germany
  • 25 Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA
  • 26 Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
  • 27 Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Istituto Nazionale dei Tumori (INT), Milan, Italy
  • 28 McGill University and Génome Québec Innovation Centre, Montréal, Québec, Canada
  • 29 Department of Medical Oncology, University Hospital, Vall d'Hebron, Barcelona, Spain
  • 30 Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy
  • 31 Bâtiment Cheney D, Centre Léon Bérard, Lyon, France
  • 32 Laboratory of Cell Biology, Department of Pathology, Landspitali, Reykjavik, Iceland
  • 33 Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany
  • 34 Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany
  • 35 Human Genotyping Unit -Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
  • 36 Institute of Biochemistry and Genetics, Ufa Scientific Center of the Russian Academy of Sciences, Ufa, Russian Federation
  • 37 Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA
  • 38 Université Clermont Auvergne, INSERM, U1240, Imagerie Moléculaire et Stratégies Théranostiques, Centre Jean Perrin, Clermont-Ferrand, France
  • 39 Clinical Cancer Genetics, City of Hope, Duarte, California, USA
  • 40 Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands
  • 41 Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  • 42 Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
  • 43 City of Hope Clinical Cancer Genomics Community Research Network, Duarte, California, USA
  • 44 Vesalius Research Center, VIB, Leuven, Belgium
  • 45 Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark
  • 46 Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
  • 47 Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway
  • 48 Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary
  • 49 Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
  • 50 Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
  • 51 Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany
  • 52 Gustave Roussy, Biopathology Department, Villejuif, France
  • 53 Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK
  • 54 Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA
  • 55 Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden
  • 56 Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada
  • 57 Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, Girona, Spain
  • 58 Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany
  • 59 Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany
  • 60 Department of Medicine, Huntsman Cancer Institute, Salt Lake City, Utah, USA
  • 61 Medical Oncology Department, CIBERONC, Hospital Clínico San Carlos, Madrid, Spain
  • 62 Section of Molecular Genetics, Department of Laboratory Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy
  • 63 Research Department, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
  • 64 Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany
  • 65 Genomic Medicine Group, Galician Foundation of Genomic Medicine, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, Servizo Galego de Saúde SERGAS, Santiago de Compostela, Spain
  • 66 Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA
  • 67 Oncology and Genetics Unit, Instituto de Investigación Biomédica (IBI) de Orense-Pontevedra-Vigo, Xerencia de Xestión Integrada de Vigo, Servizo Galego de Saúde SERGAS, Vigo, Spain
  • 68 Centre François Baclesse, Caen, France
  • 69 Service de Génétique Oncologique and INSERM U830, Institut Curie, Paris, France - Université Paris Descartes, Sorbonne Paris Cité
  • 70 Division of Cancer Prevention and Population Sciences, Roswell Park Cancer Institute, Buffalo, New York, USA
  • 71 Unité de Recherche en Santé des Populations, Centre des Maladies du Sein Deschênes-Fabia, Hôpital du Saint-Sacrement, Québec City, Québec, Canada
  • 72 Department of Radiation Oncology, Hannover Medical School, Hannover, Germany
  • 73 Center for Medical Genetics, Ghent University, Ghent, Belgium
  • 74 Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia
  • 75 Huntsman Cancer Institute, Salt Lake City, Utah, USA
  • 76 Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK
  • 77 Cancer and Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France
  • 78 Division of Molecular Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands
  • 79 Unité d'Oncogénétique, CHU Arnaud de Villeneuve, Montpellier, France
  • 80 Academic Unit of Molecular Oncology, Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK
  • 81 Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK
  • 82 Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK
  • 83 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
  • 84 Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA
  • 85 Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, UK
  • 86 Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands
  • 87 Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Clinical and Molecular Genetics Area, Vall d'Hebron University Hospital, Barcelona, Spain
  • 88 Department of Gynecology and Obstetrics, Ludwig Maximilians University of Munich, Munich, Germany
  • 89 Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Arcadia, South Africa
  • 90 Gynaecology Research Unit, Hannover Medical School, Hannover, Germany
  • 91 Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK
  • 92 Southampton Clinical Trials Unit, Faculty of Medicine, University of Southampton, Southampton, UK
  • 93 Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK
  • 94 Institute of Human Genetics, University of Münster, Münster, Germany
  • 95 Cancer Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK
  • 96 Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, UK
  • 97 Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
  • 98 Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
  • 99 Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany
  • 100 Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA
  • 101 Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
  • 102 Genetics Department, Dijon University Hospital, Dijon, France
  • 103 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
  • 104 Institute for Medical Biometrics and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • 105 Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK
  • 106 Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
  • 107 Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, Québec, Canada
  • 108 Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, Israel
  • 109 School of Public Health, Curtin University, Perth, Western Australia, Australia
  • 110 Clinical Cancer Genetics Laboratory, Memorial Sloan Kettering Cancer Center, New York, New York, USA
  • 111 Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
  • 112 Division of Cancer Prevention and Control Research, Jonsson Comprehensive Cancer Center, Schools of Medicine and Public Health, University of California, Los Angeles, Los Angeles, California, USA
  • 113 Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, Massachusetts, USA
  • 114 Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany
  • 115 Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece
  • 116 Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
  • 117 Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA
  • 118 Department of Medicine, McGill University, Montréal, Québec, Canada
  • 119 Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA
  • 120 Department of Obstetrics and Gynecology, Ohio State University James Comprehensive Cancer Center, Columbus, Ohio, USA
  • 121 Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA
  • 122 Department of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland
  • 123 Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
  • 124 Centre de Recherche du Centre Hospitalier de Université de Montréal (CHUM), Montréal, Québec, Canada
  • 125 Department of Obstetrics and Gynaecology and Comprehensive Cancer Centre, Medical University of Vienna, Vienna, Austria
  • 126 Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
  • 127 Center for Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany
  • 128 Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA
  • 129 Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
  • 130 Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA
  • 131 Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany
  • 132 Department of Biostatistics and Epidemiology, University of Massachusetts, Amherst, Amherst, Massachusetts, USA
  • 133 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
  • 134 Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland
  • 135 Institute of Genetic Medicine, Centre for Life, Newcastle-upon-Tyne Hospitals NHS Trust, Newcastle-upon-Tyne, UK
  • 136 School of Population Health, University of Western Australia, Perth, Western Australia, Australia
  • 137 Cancer Genomics Research Laboratory (CGR), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
  • 138 Medical Genetics Unit, St George's, University of London, London, UK
  • 139 Family Cancer Clinic, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands
  • 140 Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, the Netherlands
  • 141 Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia
  • 142 Center for Medical Genetics, NorthShore University HealthSystem, Evanston, Illinois, USA
  • 143 N.N. Petrov Institute of Oncology, St. Petersburg, Russian Federation
  • 144 Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA
  • 145 Division of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan
  • 146 Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK
  • 147 Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia
  • 148 State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania
  • 149 Department of Gynaecology and Obstetrics, University of Ulm, Ulm, Germany
  • 150 Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark
  • 151 Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA
  • 152 Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK
  • 153 Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland
  • 154 Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea
  • 155 Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
  • 156 School of Medicine, National University of Ireland, Galway, Ireland
  • 157 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands
  • 158 Leuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium
  • 159 Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  • 160 Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada
  • 161 Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece
  • 162 Department of Clinical Genetics, Odense University Hospital, Odense, Denmark
  • 163 Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong
  • 164 Department of Pathology, University Hospital of Region Zealand, Division Slagelse, Slagelse, Denmark
  • 165 Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
  • 166 Clalit National Cancer Control Center, Haifa, Israel
  • 167 Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France
  • 168 Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain
  • 169 University of Hawaii Cancer Center, Honolulu, Hawaii, USA
  • 170 Department of Surgery, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Republic of Korea
  • 171 Department of Surgery, Soonchunhyang University and Hospital, Seoul, Republic of Korea
  • 172 Institut Curie, Paris, France
  • 173 Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona, USA
  • 174 Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA
  • 175 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
  • 176 Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland
  • 177 German Breast Group, Neu Isenburg, Germany
  • 178 Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, Macedonia
  • 179 Division of Public Health Sciences, Epidemiology Program, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA
  • 180 Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA
  • 181 Department of Oncology, Pathology, Karolinska Institutet, Stockholm, Sweden
  • 182 Moores Cancer Center, University of California, San Diego, La Jolla, California, USA
  • 183 Division of Molecular and Clinical Epidemiology, Aichi Cancer Center Research Institute, Nagoya, Japan
  • 184 Lyon Neuroscience Research Center-CRNL, INSERM U1028, CNRS UMR 5292, University of Lyon, Lyon, France
  • 185 Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia
  • 186 Servicio de Anatomía Patológica, Hospital Monte Naranco, Oviedo, Spain
  • 187 Saw Swee Hock School of Public Health, National University of Singapore, Singapore
  • 188 NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, New York, USA
  • 189 Institute of Population Health, University of Manchester, Manchester, UK
  • 190 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
  • 191 Université Paris Sorbonne Cité, INSERM UMRS 1147, Paris, France
  • 192 Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany
  • 193 Department of Medicine, University of California, San Francisco,San Francisco, California, USA
  • 194 Center for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, Illinois, USA
  • 195 West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, UK
  • 196 Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
  • 197 Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre (CNIO), Madrid, Spain
  • 198 University of New Mexico Health Sciences Center, University of New Mexico, Albuquerque, New Mexico, USA
  • 199 Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy
  • 200 Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
  • 201 Curtin UWA Centre for Genetic Origins of Health and Disease, Curtin University and University of Western Australia, Perth, Western Australia, Australia
  • 202 Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark
  • 203 Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
  • 204 Servicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain
  • 205 IFOM, FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy
  • 206 Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, USA
  • 207 South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, UK
  • 208 Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russian Federation
  • 209 ProCURE, Catalan Institute of Oncology, IDIBELL (Bellvitge Biomedical Research Institute), Barcelona, Spain
  • 210 Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland
  • 211 Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Istituto Nazionale dei Tumori (INT), Milan, Italy
  • 212 Section of Cancer Genetics, The Institute of Cancer Research, London, UK
  • 213 Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
  • 214 Brigham and Women's Hospital, Dana-Farber Cancer Institute, Boston, Massachusetts, USA
  • 215 Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, Evanston, Illinois, USA
  • 216 Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands
  • 217 Institute of Pathology, Staedtisches Klinikum Karlsruhe, Karlsruhe, Germany
  • 218 Hereditary Cancer Clinic, University Hospital of Heraklion, Heraklion, Greece
  • 219 Department of Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands
  • 220 Epidemiology Branch, National Institute of Environmental Health Sciences, US National Institutes of Health, Research Triangle Park, North Carolina, USA
  • 221 National Cancer Institute, Bangkok, Thailand
  • 222 Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, USA
  • 223 Research Oncology, Guy's Hospital, King's College London, London, UK
  • 224 Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia
  • 225 Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, USA
  • 226 Department of Internal Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA
  • 227 School of Public Health, China Medical University, Taichung, Taiwan
  • 228 North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK
  • 229 National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany
  • 230 Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia
  • 231 Cancer Control Research, BC Cancer Agency, Vancouver, British Columbia, Canada
  • 232 Saarland Cancer Registry, Saarbrücken, Germany
  • 233 Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany
  • 234 National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
  • 235 Molecular Genetics Laboratory, Clinical Genetics Service, Cruces University Hospital and BioCruces Health Research Institute, Barakaldo, Spain
  • 236 Cancer Research Malaysia, Subang Jaya, Malaysia
  • 237 Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA
  • 238 Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain
  • 239 Department of Cancer Epidemiology, Clinical Cancer Registry, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • 240 Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
  • 241 Ospedale di Circolo ASST Settelaghi, Varese, Italy
  • 242 Latvian Biomedical Research and Study Centre, Riga, Latvia
  • 243 Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, USA
  • 244 Department of Surgery, Leiden University Medical Center, Leiden, the Netherlands
  • 245 Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK
  • 246 Hereditary Cancer Clinic, Department of Medical Oncology, Prince of Wales Hospital, Randwick, New South Wales, Australia
  • 247 Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
  • 248 Frauenklinik der Stadtklinik Baden Baden, Baden Baden, Germany
  • 249 Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
  • 250 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands
  • 251 Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) AOU San Martino, IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy
  • 252 Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany
  • 253 Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde SERGAS, Instituto de Investigaciones Sanitarias (IDIS), Santiago de Compostela, Spain
  • 254 Unit of Functional Onco-genomics and Genetics, CRO Aviano, National Cancer Institute, Aviano, Italy
  • 255 Oxford Regional Genetics Service, Churchill Hospital, Oxford, UK
  • 256 Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, US National Institutes of Health, Research Triangle Park, North Carolina, USA
  • 257 Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA
  • 258 Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands
  • 259 Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA
  • 260 Department of Medicine, Institute for Human Genetics, UCSF Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California, USA
  • 261 Clinical Genetics Research Laboratory, Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA
  • 262 Department of Molecular Medicine, University La Sapienza, Rome, Italy
  • 263 Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany
Nat Genet, 2017 Dec;49(12):1767-1778.
PMID: 29058716 DOI: 10.1038/ng.3785

Abstract

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.

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

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