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Nat Genet. 2017 Dec;49(12):1767-1778. doi: 10.1038/ng.3785. Epub 2017 Oct 23.

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

Milne RL1,2, Kuchenbaecker KB3,4, Michailidou K3,5, Beesley J6, Kar S7, Lindström S8,9, Hui S10, Lemaçon A11, Soucy P11, Dennis J3, Jiang X9, Rostamianfar A10, Finucane H9,12, Bolla MK3, McGuffog L3, Wang Q3, Aalfs CM13; ABCTB Investigators, Adams M14, Adlard J15, Agata S16, Ahmed S7, Ahsan H17, Aittomäki K18, Al-Ejeh F19, Allen J3, Ambrosone CB20, Amos CI21, Andrulis IL22,23, Anton-Culver H24, Antonenkova NN25, Arndt V26, Arnold N27, Aronson KJ28, Auber B29, Auer PL30,31, Ausems MGEM32, Azzollini J33, Bacot F34, Balmaña J35, Barile M36, Barjhoux L37, Barkardottir RB38,39, Barrdahl M40, Barnes D3, Barrowdale D3, Baynes C7, Beckmann MW41, Benitez J42,43,44, Bermisheva M45, Bernstein L46, Bignon YJ47, Blazer KR48, Blok MJ49, Blomqvist C50, Blot W51,52, Bobolis K53, Boeckx B54,55, Bogdanova NV25,56,57, Bojesen A58, Bojesen SE59,60,61, Bonanni B36, Børresen-Dale AL62, Bozsik A63, Bradbury AR64, Brand JS65, Brauch H66,67,68, Brenner H26,68,69, Bressac-de Paillerets B70, Brewer C71, Brinton L72, Broberg P73, Brooks-Wilson A74,75, Brunet J76, Brüning T77, Burwinkel B78,79, Buys SS80, Byun J21, Cai Q51, Caldés T81, Caligo MA82, Campbell I83,84, Canzian F85, Caron O70, Carracedo A86,87, Carter BD88, Castelao JE89, Castera L90, Caux-Moncoutier V91, Chan SB, Chang-Claude J40,92, Chanock SJ72, Chen X6, Cheng TD93, Chiquette J94, Christiansen H56, Claes KBM95, Clarke CL96, Conner T97, Conroy DM7, Cook J98, Cordina-Duverger E99, Cornelissen S100, Coupier I101, Cox A102, Cox DG103,104, Cross SS105, Cuk K26, Cunningham JM106, Czene K65, Daly MB107, Damiola F37, Darabi H65, Davidson R108, De Leeneer K95, Devilee P109,110, Dicks E7, Diez O111, Ding YC46, Ditsch N112, Doheny KF14, Domchek SM64, Dorfling CM113, Dörk T57, Dos-Santos-Silva I114, Dubois S11, Dugué PA1,2, Dumont M11, Dunning AM7, Durcan L115,116, Dwek M117, Dworniczak B118, Eccles D116, Eeles R119, Ehrencrona H120, Eilber U40, Ejlertsen B121, Ekici AB122, Eliassen AH123,124; EMBRACE, Engel C125,126, Eriksson M65, Fachal L7, Faivre L127,128, Fasching PA41,129, Faust U130, Figueroa J72,131, Flesch-Janys D132,133, Fletcher O134, Flyger H135, Foulkes WD136, Friedman E137,138, Fritschi L139, Frost D3, Gabrielson M65, Gaddam P140, Gammon MD141, Ganz PA142, Gapstur SM88, Garber J143, Garcia-Barberan V81, García-Sáenz JA81, Gaudet MM88, Gauthier-Villars M91, Gehrig A144; GEMO Study Collaborators, Georgoulias V145, Gerdes AM146, Giles GG1,2, Glendon G22, Godwin AK147, Goldberg MS148,149, Goldgar DE150, González-Neira A42, Goodfellow P151, Greene MH152, Alnæs GIG62, Grip M153, Gronwald J154, Grundy A155, Gschwantler-Kaulich D156, Guénel P99, Guo Q157, Haeberle L41, Hahnen E158,159,160, Haiman CA161, Håkansson N162, Hallberg E163, Hamann U164, Hamel N34, Hankinson S165, Hansen TVO166, Harrington P7, Hart SN163, Hartikainen JM167,168,169, Healey CS7; HEBON, Hein A41, Helbig S57, Henderson A170, Heyworth J171, Hicks B172, Hillemanns P57, Hodgson S173, Hogervorst FB174, Hollestelle A175, Hooning MJ175, Hoover B72, Hopper JL2, Hu C106, Huang G164, Hulick PJ176,177, Humphreys K65, Hunter DJ9,124, Imyanitov EN178, Isaacs C179, Iwasaki M180, Izatt L181, Jakubowska A154, James P84,182, Janavicius R183, Janni W184, Jensen UB185, John EM186,187, Johnson N134, Jones K172, Jones M188, Jukkola-Vuorinen A189, Kaaks R40, Kabisch M164, Kaczmarek K154, Kang D190,191,192, Kast K193; kConFab/AOCS Investigators, Keeman R100, Kerin MJ194, Kets CM195, Keupers M196, Khan S197, Khusnutdinova E45,198, Kiiski JI197, Kim SW156, Knight JA199,200, Konstantopoulou I201, Kosma VM167,168,169, Kristensen VN62,202,203, Kruse TA204, Kwong A205,206,207, Lænkholm AV208, Laitman Y137, Lalloo F209, Lambrechts D54,55, Landsman K210, Lasset C211, Lazaro C212, Le Marchand L213, Lecarpentier J3, Lee A3, Lee E161, Lee JW214, Lee MH215, Lejbkowicz F210, Lesueur F216,217,218,219, Li J65, Lilyquist J220, Lincoln A221, Lindblom A222, Lissowska J223, Lo WY66,67, Loibl S224, Long J51, Loud JT152, Lubinski J154, Luccarini C7, Lush M3, MacInnis RJ1,2, Maishman T115,116, Makalic E2, Kostovska IM225, Malone KE226, Manoukian S33, Manson JE227, Margolin S228, Martens JWM175, Martinez ME229,230, Matsuo K231,232, Mavroudis D145, Mazoyer S233, McLean C234, Meijers-Heijboer H13,235, Menéndez P236, Meyer J106, Miao H237, Miller A238, Miller N194, Mitchell G84,182, Montagna M16, Muir K239,240, Mulligan AM241,242, Mulot C243, Nadesan S53, Nathanson KL64; NBSC Collaborators, Neuhausen SL46, Nevanlinna H197, Nevelsteen I196, Niederacher D244, Nielsen SF59,60, Nordestgaard BG59,60,61, Norman A163, Nussbaum RL245, Olah E63, Olopade OI246, Olson JE163, Olswold C163, Ong KR247, Oosterwijk JC248, Orr N134, Osorio A43,44, Pankratz VS249, Papi L250, Park-Simon TW57, Paulsson-Karlsson Y251, Lloyd R252, Pedersen IS253, Peissel B33, Peixoto A254, Perez JIA255, Peterlongo P256, Peto J114, Pfeiler G157, Phelan CM257, Pinchev M210, Plaseska-Karanfilska D225, Poppe B95, Porteous ME258, Prentice R30, Presneau N117, Prokofieva D198, Pugh E14, Pujana MA259, Pylkäs K260,261, Rack B112,184, Radice P262, Rahman N263, Rantala J264, Rappaport-Fuerhauser C156, Rennert G210,265, Rennert HS210,265, Rhenius V7, Rhiem K158,159,160, Richardson A266, Rodriguez GC267, Romero A81,268, Romm J14, Rookus MA269, Rudolph A40, Ruediger T270, Saloustros E271, Sanders J272, Sandler DP273, Sangrajrang S274, Sawyer EJ275, Schmidt DF2, Schoemaker MJ188, Schumacher F276, Schürmann P57, Schwentner L184, Scott C163, Scott RJ277,278, Seal S263, Senter L279, Seynaeve C175, Shah M7, Sharma P280, Shen CY281,282, Sheng X161, Shimelis H106, Shrubsole MJ51, Shu XO51, Side LE283, Singer CF156, Sohn C284, Southey MC285, Spinelli JJ286,287, Spurdle AB6, Stegmaier C288, Stoppa-Lyonnet D91, Sukiennicki G154, Surowy H78,79, Sutter C289, Swerdlow A188,290, Szabo CI291, Tamimi RM9,123,124, Tan YY156, Taylor JA273,292, Tejada MI293, Tengström M167,294,295, Teo SH296,297, Terry MB298, Tessier DC34, Teulé A299, Thöne K133, Thull DL300, Tibiletti MG301, Tihomirova L302, Tischkowitz M136,303, Toland AE304, Tollenaar RAEM305, Tomlinson I306, Tong L17, Torres D164,307, Tranchant M11, Truong T99, Tucker K308, Tung N309, Tyrer J7, Ulmer HU310, Vachon C163, van Asperen CJ311, Van Den Berg D161, van den Ouweland AMW312, van Rensburg EJ113, Varesco L313, Varon-Mateeva R314, Vega A315,316, Viel A317, Vijai J221, Vincent D34, Vollenweider J106, Walker L318, Wang Z72,319, Wang-Gohrke S184, Wappenschmidt B158,159,160, Weinberg CR320, Weitzel JN48, Wendt C228, Wesseling J100,272, Whittemore AS187,321, Wijnen JT110,312, Willett W124,322, Winqvist R260,261, Wolk A162, Wu AH161, Xia L161, Yang XR72, Yannoukakos D201, Zaffaroni D33, Zheng W51, Zhu B172, Ziogas A24, Ziv E323, Zorn KK301, Gago-Dominguez M86,229, Mannermaa A167,168,169, Olsson H73, Teixeira MR254,324, Stone J252,325, Offit K326,327, Ottini L328, Park SK190,192, Thomassen M204, Hall P65,329, Meindl A330, Schmutzler RK158,160, Droit A11, Bader GD10, Pharoah PDP3,7, Couch FJ106, Easton DF3,7, Kraft P9,124, Chenevix-Trench G6, García-Closas M72, Schmidt MK100,331, Antoniou AC3, Simard J11.

Author information

1
Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
2
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
3
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
4
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
5
Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
6
Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
7
Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
8
Department of Epidemiology, University of Washington School of Public Health, Seattle, Washington, USA.
9
Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
10
Donnelly Centre, University of Toronto, Toronto, Ontario, Canada.
11
Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.
12
Department of Mathematics, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
13
Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
14
Center for Inherited Disease Research (CIDR), Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
15
Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
16
Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), IRCCS, Padua, Italy.
17
Center for Cancer Epidemiology and Prevention, University of Chicago, Chicago, Illinois, USA.
18
Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
19
Personalised Medicine Team, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
20
Roswell Park Cancer Institute, Buffalo, New York, USA.
21
Center for Genomic Medicine, Department of Biomedical Data Science, Geisel School of Medicine, Dartmouth College, Lebanon, New Hampshire, USA.
22
Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
23
Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
24
Department of Epidemiology, University of California, Irvine, Irvine, California, USA.
25
N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
26
Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
27
Institute of Clinical Molecular Biology / Department of Gynecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
28
Department of Public Health Sciences and Cancer Research Institute, Queen's University, Kingston, Ontario, Canada.
29
Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
30
Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
31
Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin, USA.
32
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
33
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.
34
McGill University and Génome Québec Innovation Centre, Montréal, Québec, Canada.
35
Department of Medical Oncology, University Hospital, Vall d'Hebron, Barcelona, Spain.
36
Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
37
Bâtiment Cheney D, Centre Léon Bérard, Lyon, France.
38
Laboratory of Cell Biology, Department of Pathology, Landspitali, Reykjavik, Iceland.
39
BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
40
Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
41
Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
42
Human Genotyping Unit -Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
43
Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre (CNIO), Madrid, Spain.
44
Spanish Network on Rare Diseases (CIBERER), Madrid, Spain.
45
Institute of Biochemistry and Genetics, Ufa Scientific Center of the Russian Academy of Sciences, Ufa, Russian Federation.
46
Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA.
47
Université Clermont Auvergne, INSERM, U1240, Imagerie Moléculaire et Stratégies Théranostiques, Centre Jean Perrin, Clermont-Ferrand, France.
48
Clinical Cancer Genetics, City of Hope, Duarte, California, USA.
49
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
50
Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
51
Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
52
International Epidemiology Institute, Rockville, Maryland, USA.
53
City of Hope Clinical Cancer Genomics Community Research Network, Duarte, California, USA.
54
Vesalius Research Center, VIB, Leuven, Belgium.
55
Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium.
56
Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.
57
Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
58
Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark.
59
Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
60
Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
61
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
62
Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway.
63
Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
64
Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
65
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
66
Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
67
University of Tübingen, Tübingen, Germany.
68
German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
69
Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
70
Gustave Roussy, Biopathology Department, Villejuif, France.
71
Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK.
72
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
73
Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
74
Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
75
Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, British Columbia, Canada.
76
Genetic Counseling Unit, Hereditary Cancer Program, IDIBGI (Institut d'Investigació Biomèdica de Girona), Catalan Institute of Oncology, Girona, Spain.
77
Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany.
78
Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
79
Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
80
Department of Medicine, Huntsman Cancer Institute, Salt Lake City, Utah, USA.
81
Medical Oncology Department, CIBERONC, Hospital Clínico San Carlos, Madrid, Spain.
82
Section of Molecular Genetics, Department of Laboratory Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy.
83
Research Department, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia.
84
Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.
85
Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
86
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.
87
Centro de Investigación en Red de Enfermedades Raras (CIBERER) and Centro Nacional de Genotipado (CEGEN-PRB2), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
88
Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
89
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.
90
Centre François Baclesse, Caen, France.
91
Service de Génétique Oncologique and INSERM U830, Institut Curie, Paris, France - Université Paris Descartes, Sorbonne Paris Cité.
92
University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
93
Division of Cancer Prevention and Population Sciences, Roswell Park Cancer Institute, Buffalo, New York, USA.
94
Unité de Recherche en Santé des Populations, Centre des Maladies du Sein Deschênes-Fabia, Hôpital du Saint-Sacrement, Québec City, Québec, Canada.
95
Center for Medical Genetics, Ghent University, Ghent, Belgium.
96
Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
97
Huntsman Cancer Institute, Salt Lake City, Utah, USA.
98
Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.
99
Cancer and Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.
100
Division of Molecular Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
101
Unité d'Oncogénétique, CHU Arnaud de Villeneuve, Montpellier, France.
102
Academic Unit of Molecular Oncology, Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
103
Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
104
INSERM U1052, Cancer Research Center of Lyon, Lyon, France.
105
Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
106
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
107
Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA.
108
Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, UK.
109
Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
110
Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
111
Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Clinical and Molecular Genetics Area, Vall d'Hebron University Hospital, Barcelona, Spain.
112
Department of Gynecology and Obstetrics, Ludwig Maximilians University of Munich, Munich, Germany.
113
Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Arcadia, South Africa.
114
Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
115
Southampton Clinical Trials Unit, Faculty of Medicine, University of Southampton, Southampton, UK.
116
Cancer Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK.
117
Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK.
118
Institute of Human Genetics, University of Münster, Münster, Germany.
119
Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, UK.
120
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden.
121
Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
122
Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
123
Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
124
Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
125
Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
126
LIFE-Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany.
127
Genetics Department, Dijon University Hospital, Dijon, France.
128
Oncogenetics, Centre Georges-François Leclerc, Dijon, France.
129
Division of Hematology and Oncology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
130
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
131
Usher Institute of Population Health Sciences and Informatics, CRUK Edinburgh Centre, University of Edinburgh Medical School, Edinburgh, UK.
132
Institute for Medical Biometrics and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
133
Department of Cancer Epidemiology, Clinical Cancer Registry, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
134
Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
135
Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
136
Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, Québec, Canada.
137
Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, Israel.
138
Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
139
School of Public Health, Curtin University, Perth, Western Australia, Australia.
140
Clinical Cancer Genetics Laboratory, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
141
Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
142
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.
143
Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
144
Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany.
145
Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
146
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
147
Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA.
148
Department of Medicine, McGill University, Montréal, Québec, Canada.
149
Division of Clinical Epidemiology, Royal Victoria Hospital, McGill University, Montréal, Québec, Canada.
150
Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
151
Department of Obstetrics and Gynecology, Ohio State University James Comprehensive Cancer Center, Columbus, Ohio, USA.
152
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA.
153
Department of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland.
154
Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
155
Centre de Recherche du Centre Hospitalier de Université de Montréal (CHUM), Montréal, Québec, Canada.
156
Department of Obstetrics and Gynaecology and Comprehensive Cancer Centre, Medical University of Vienna, Vienna, Austria.
157
Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
158
Center for Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.
159
Center for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.
160
Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
161
Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
162
Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
163
Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
164
Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
165
Department of Biostatistics and Epidemiology, University of Massachusetts, Amherst, Amherst, Massachusetts, USA.
166
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
167
Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
168
Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.
169
Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
170
Institute of Genetic Medicine, Centre for Life, Newcastle-upon-Tyne Hospitals NHS Trust, Newcastle-upon-Tyne, UK.
171
School of Population Health, University of Western Australia, Perth, Western Australia, Australia.
172
Cancer Genomics Research Laboratory (CGR), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
173
Medical Genetics Unit, St George's, University of London, London, UK.
174
Family Cancer Clinic, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
175
Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
176
Center for Medical Genetics, NorthShore University HealthSystem, Evanston, Illinois, USA.
177
Pritzker School of Medicine, University of Chicago, Evanston, Illinois, USA.
178
N.N. Petrov Institute of Oncology, St. Petersburg, Russian Federation.
179
Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.
180
Division of Epidemiology, Center for Public Health Sciences, National Cancer Center, Tokyo, Japan.
181
Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
182
Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
183
State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania.
184
Department of Gynaecology and Obstetrics, University of Ulm, Ulm, Germany.
185
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
186
Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA.
187
Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA.
188
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
189
Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.
190
Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
191
Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
192
Cancer Research Institute, Seoul National University, Seoul, Republic of Korea.
193
Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
194
School of Medicine, National University of Ireland, Galway, Ireland.
195
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
196
Leuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
197
Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
198
Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russian Federation.
199
Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
200
Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
201
Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece.
202
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
203
Department of Clinical Molecular Biology, Oslo University Hospital, University of Oslo, Oslo, Norway.
204
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
205
Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong.
206
Department of Surgery, University of Hong Kong, Hong Kong.
207
Department of Surgery, Hong Kong Sanatorium and Hospital, Hong Kong.
208
Department of Pathology, University Hospital of Region Zealand, Division Slagelse, Slagelse, Denmark.
209
Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
210
Clalit National Cancer Control Center, Haifa, Israel.
211
Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France.
212
Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain.
213
University of Hawaii Cancer Center, Honolulu, Hawaii, USA.
214
Department of Surgery, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Republic of Korea.
215
Department of Surgery, Soonchunhyang University and Hospital, Seoul, Republic of Korea.
216
Institut Curie, Paris, France.
217
PSL Research University, Paris, France.
218
INSERM U900, Paris, France.
219
Mines Paris Tech, Fontainebleau, France.
220
Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona, USA.
221
Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
222
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
223
Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.
224
German Breast Group, Neu Isenburg, Germany.
225
Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, Macedonia.
226
Division of Public Health Sciences, Epidemiology Program, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
227
Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
228
Department of Oncology, Pathology, Karolinska Institutet, Stockholm, Sweden.
229
Moores Cancer Center, University of California, San Diego, La Jolla, California, USA.
230
Department of Family Medicine and Public Health, University of California, San Diego, La Jolla, California, USA.
231
Division of Molecular and Clinical Epidemiology, Aichi Cancer Center Research Institute, Nagoya, Japan.
232
Department of Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
233
Lyon Neuroscience Research Center-CRNL, INSERM U1028, CNRS UMR 5292, University of Lyon, Lyon, France.
234
Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia.
235
Department of Clinical Genetics, VU University Medical Centre, Amsterdam, the Netherlands.
236
Servicio de Anatomía Patológica, Hospital Monte Naranco, Oviedo, Spain.
237
Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
238
NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, New York, USA.
239
Institute of Population Health, University of Manchester, Manchester, UK.
240
Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
241
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
242
Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.
243
Université Paris Sorbonne Cité, INSERM UMRS 1147, Paris, France.
244
Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
245
Department of Medicine, University of California, San Francisco,San Francisco, California, USA.
246
Center for Clinical Cancer Genetics and Global Health, University of Chicago, Chicago, Illinois, USA.
247
West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, UK.
248
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
249
University of New Mexico Health Sciences Center, University of New Mexico, Albuquerque, New Mexico, USA.
250
Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy.
251
Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
252
Curtin UWA Centre for Genetic Origins of Health and Disease, Curtin University and University of Western Australia, Perth, Western Australia, Australia.
253
Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
254
Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.
255
Servicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain.
256
IFOM, FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.
257
Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, USA.
258
South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, UK.
259
ProCURE, Catalan Institute of Oncology, IDIBELL (Bellvitge Biomedical Research Institute), Barcelona, Spain.
260
Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
261
Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland.
262
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.
263
Section of Cancer Genetics, The Institute of Cancer Research, London, UK.
264
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
265
Carmel Medical Center and B. Rappaport Faculty of Medicine-Technion, Haifa, Israel.
266
Brigham and Women's Hospital, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
267
Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, Evanston, Illinois, USA.
268
Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.
269
Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands.
270
Institute of Pathology, Staedtisches Klinikum Karlsruhe, Karlsruhe, Germany.
271
Hereditary Cancer Clinic, University Hospital of Heraklion, Heraklion, Greece.
272
Department of Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
273
Epidemiology Branch, National Institute of Environmental Health Sciences, US National Institutes of Health, Research Triangle Park, North Carolina, USA.
274
National Cancer Institute, Bangkok, Thailand.
275
Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, USA.
276
Research Oncology, Guy's Hospital, King's College London, London, UK.
277
Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia.
278
Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health, University of Newcastle, Callaghan, New South Wales, Australia.
279
Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, USA.
280
Department of Internal Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA.
281
School of Public Health, China Medical University, Taichung, Taiwan.
282
Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
283
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
284
National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.
285
Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia.
286
Cancer Control Research, BC Cancer Agency, Vancouver, British Columbia, Canada.
287
School of Population and Public Health, University of British Columbia, Vancouver, British Columbia, Canada.
288
Saarland Cancer Registry, Saarbrücken, Germany.
289
Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
290
Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
291
National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA.
292
Epigenetic and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, US National Institutes of Health, Research Triangle Park, North Carolina, USA.
293
Molecular Genetics Laboratory, Clinical Genetics Service, Cruces University Hospital and BioCruces Health Research Institute, Barakaldo, Spain.
294
Cancer Center, Kuopio University Hospital, Kuopio, Finland.
295
Institute of Clinical Medicine, Oncology, University of Eastern Finland, Kuopio, Finland.
296
Cancer Research Malaysia, Subang Jaya, Malaysia.
297
Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia.
298
Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA.
299
Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Barcelona, Spain.
300
Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
301
Ospedale di Circolo ASST Settelaghi, Varese, Italy.
302
Latvian Biomedical Research and Study Centre, Riga, Latvia.
303
Department of Medical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, UK.
304
Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, USA.
305
Department of Surgery, Leiden University Medical Center, Leiden, the Netherlands.
306
Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.
307
Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia.
308
Hereditary Cancer Clinic, Department of Medical Oncology, Prince of Wales Hospital, Randwick, New South Wales, Australia.
309
Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
310
Frauenklinik der Stadtklinik Baden Baden, Baden Baden, Germany.
311
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
312
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
313
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.
314
Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany.
315
Fundación Pública Galega de Medicina Xenómica, Servizo Galego de Saúde SERGAS, Instituto de Investigaciones Sanitarias (IDIS), Santiago de Compostela, Spain.
316
Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
317
Unit of Functional Onco-genomics and Genetics, CRO Aviano, National Cancer Institute, Aviano, Italy.
318
Oxford Regional Genetics Service, Churchill Hospital, Oxford, UK.
319
Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
320
Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, US National Institutes of Health, Research Triangle Park, North Carolina, USA.
321
Department of Biomedical Data Sciences, Stanford University School of Medicine, Stanford, California, USA.
322
Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.
323
Department of Medicine, Institute for Human Genetics, UCSF Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California, USA.
324
Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal.
325
Department of Obstetrics and Gynaecology, University of Melbourne and the Royal Women's Hospital, Melbourne, Victoria, Australia.
326
Clinical Genetics Research Laboratory, Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
327
Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
328
Department of Molecular Medicine, University La Sapienza, Rome, Italy.
329
Department of Oncology, South General Hospital, Stockholm, Sweden.
330
Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
331
Division of Psychosocial Research and Epidemiology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.

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.

PMID:
29058716
PMCID:
PMC5808456
DOI:
10.1038/ng.3785
[Indexed for MEDLINE]
Free PMC Article

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