Format

Send to

Choose Destination
Nat Genet. 2015 Apr;47(4):373-80. doi: 10.1038/ng.3242. Epub 2015 Mar 9.

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

Michailidou K1, Beesley J2, Lindstrom S3, Canisius S4, Dennis J1, Lush MJ1, Maranian MJ5, Bolla MK1, Wang Q1, Shah M5, Perkins BJ5, Czene K6, Eriksson M6, Darabi H6, Brand JS6, Bojesen SE7, Nordestgaard BG7, Flyger H8, Nielsen SF9, Rahman N10, Turnbull C10; BOCS, Fletcher O11, Peto J12, Gibson L12, dos-Santos-Silva I12, Chang-Claude J13, Flesch-Janys D14, Rudolph A13, Eilber U13, Behrens S13, Nevanlinna H15, Muranen TA15, Aittomäki K16, Blomqvist C17, Khan S15, Aaltonen K15, Ahsan H18, Kibriya MG19, Whittemore AS20, John EM21, Malone KE22, Gammon MD23, Santella RM24, Ursin G25, Makalic E26, Schmidt DF26, Casey G27, Hunter DJ3, Gapstur SM28, Gaudet MM28, Diver WR28, Haiman CA27, Schumacher F27, Henderson BE27, Le Marchand L29, Berg CD30, Chanock SJ31, Figueroa J31, Hoover RN31, Lambrechts D32, Neven P33, Wildiers H33, van Limbergen E33, Schmidt MK34, Broeks A34, Verhoef S34, Cornelissen S34, Couch FJ35, Olson JE36, Hallberg E36, Vachon C36, Waisfisz Q37, Meijers-Heijboer H37, Adank MA37, van der Luijt RB38, Li J6, Liu J39, Humphreys K6, Kang D40, Choi JY41, Park SK40, Yoo KY42, Matsuo K43, Ito H44, Iwata H45, Tajima K46, Guénel P47, Truong T47, Mulot C48, Sanchez M47, Burwinkel B49, Marme F50, Surowy H49, Sohn C51, Wu AH27, Tseng CC27, Van Den Berg D27, Stram DO27, González-Neira A52, Benitez J53, Zamora MP54, Perez JI55, Shu XO56, Lu W57, Gao YT58, Cai H56, Cox A59, Cross SS60, Reed MW59, Andrulis IL61, Knight JA62, Glendon G63, Mulligan AM64, Sawyer EJ65, Tomlinson I66, Kerin MJ67, Miller N67; kConFab Investigators; AOCS Group, Lindblom A68, Margolin S69, Teo SH70, Yip CH71, Taib NA71, Tan GH71, Hooning MJ72, Hollestelle A72, Martens JW72, Collée JM73, Blot W74, Signorello LB75, Cai Q56, Hopper JL76, Southey MC77, Tsimiklis H77, Apicella C76, Shen CY78, Hsiung CN79, Wu PE80, Hou MF81, Kristensen VN82, Nord S83, Alnaes GI83; NBCS, Giles GG84, Milne RL84, McLean C85, Canzian F86, Trichopoulos D87, Peeters P88, Lund E89, Sund M90, Khaw KT91, Gunter MJ92, Palli D93, Mortensen LM94, Dossus L95, Huerta JM96, Meindl A97, Schmutzler RK98, Sutter C99, Yang R49, Muir K100, Lophatananon A101, Stewart-Brown S101, Siriwanarangsan P102, Hartman M103, Miao H104, Chia KS104, Chan CW105, Fasching PA106, Hein A107, Beckmann MW107, Haeberle L107, Brenner H108, Dieffenbach AK108, Arndt V109, Stegmaier C110, Ashworth A11, Orr N11, Schoemaker MJ10, Swerdlow AJ111, Brinton L31, Garcia-Closas M112, Zheng W56, Halverson SL56, Shrubsole M56, Long J56, Goldberg MS113, Labrèche F114, Dumont M115, Winqvist R116, Pylkäs K116, Jukkola-Vuorinen A117, Grip M118, Brauch H119, Hamann U120, Brüning T121; GENICA Network, Radice P122, Peterlongo P123, Manoukian S124, Bernard L125, Bogdanova NV126, Dörk T127, Mannermaa A128, Kataja V129, Kosma VM128, Hartikainen JM128, Devilee P130, Tollenaar RA131, Seynaeve C132, Van Asperen CJ133, Jakubowska A134, Lubinski J134, Jaworska K134, Huzarski T134, Sangrajrang S135, Gaborieau V136, Brennan P136, McKay J136, Slager S36, Toland AE137, Ambrosone CB138, Yannoukakos D139, Kabisch M120, Torres D140, Neuhausen SL141, Anton-Culver H142, Luccarini C5, Baynes C5, Ahmed S5, Healey CS5, Tessier DC143, Vincent D143, Bacot F143, Pita G52, Alonso MR52, Álvarez N52, Herrero D52, Simard J115, Pharoah PP144, Kraft P3, Dunning AM5, Chenevix-Trench G2, Hall P6, Easton DF144.

Collaborators (215)

Miedzybrodzka Z, Morrison P, Ong KR, Donaldson A, Tischkowitz M, Fryer A, Berg J, Porteous M, Brewer C, Davidson R, Kumar A, Shaw A, Brady AF, Adlard J, Barwell J, Greenhalgh L, Evans G, Lalloo F, Henderson A, Shannon N, Walker L, Aghmesheh M, Amor D, Andrews L, Antill Y, Armitage S, Arnold L, Balleine R, Bankier A, Bastick P, Beesley J, Beilby J, Bennett B, Bennett I, Berry G, Blackburn A, Bogwitz M, Brennan M, Brown M, Buckley M, Burgess M, Burke J, Butow P, Byron K, Callen D, Campbell I, Chauhan D, Chauhan M, Chenevix-Trench G, Christian A, Clarke C, Colley A, Cotton D, Crook A, Cui J, Culling B, Cummings M, Dawson SJ, deFazio A, Delatycki M, Dickson R, Dixon J, Dobrovic A, Dudding T, Edkins T, Edwards S, Eisenbruch M, Farshid G, Fawcett S, Fellows A, Fenton G, Field M, Firgaira F, Flanagan J, Fleming J, Fong P, Forbes J, Fox S, French J, Friedlander M, Gaff C, Gardner M, Gattas M, George P, Giles G, Gill G, Goldblatt J, Greening S, Grist S, Haan E, Hardie K, Harris M, Hart S, Hayward N, Healey S, Heiniger L, Hopper J, Humphrey E, Hunt C, James P, Jenkins M, Jones A, Kefford R, Kidd A, Kiely B, Kirk J, Koehler J, Kollias J, Kovalenko S, Lakhani S, Leaming A, Leary J, Lim J, Lindeman G, Lipton L, Lobb L, Mann G, Marsh D, McLachlan SA, Meiser B, Meldrum C, Milne R, Mitchell G, Newman B, Niedermayr E, Nightingale S, O'Connell S, O'Loughlin I, Osborne R, Pachter N, Patterson B, Peters L, Phillips K, Price M, Purser L, Reeve T, Reeve J, Richards R, Rickard E, Robinson B, Rudzki B, Saleh M, Salisbury E, Sambrook J, Saunders C, Saunus J, Sayer R, Scott E, Scott R, Scott C, Seshadri R, Sexton A, Sharma R, Shelling A, Simpson P, Southey M, Spurdle A, Suthers G, Sykes P, Tassell M, Taylor D, Taylor J, Thierry B, Thomas S, Thompson E, Thorne H, Townshend S, Trainer A, Tran L, Tucker K, Tyler J, Visvader J, Walker L, Walpole I, Ward R, Waring P, Warner B, Warren G, Williams R, Wilson J, Winship I, Wu K, Young MA, Bowtell D, Chenevix-Trench G, Green A, Webb P, deFazio A, Gertig D, Lo WY, Justenhoven C, Ko YD, Baisch C, Fischer HP, Pesch B, Rabstein S, Lotz A, Harth V, Kleivi K, Ottestad L, Kåresen R, Langerød A, Schlichting E, Holmen MM, Sauer T, Haakensen V, Engebråten O, Naume B, Kiserud CE, Reinertsen KV, Helland Å, Riis M, Bukholm I, Lønning PE, Børresen-Dale AL.

Author information

1
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
2
Department of Genetics, QIMR (Queensland Institute for Medical Research) Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
3
Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health, Boston, Massachusetts, USA.
4
Division of Molecular Carcinogenesis, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
5
Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
6
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
7
1] Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark. [2] Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark. [3] Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
8
Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
9
1] Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark. [2] Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark.
10
Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
11
Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
12
Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
13
Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
14
1] Department of Cancer Epidemiology/Clinical Cancer Registry, University Clinic Hamburg-Eppendorf, Hamburg, Germany. [2] Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany.
15
Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
16
Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
17
Department of Oncology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
18
1] Center for Cancer Epidemiology and Prevention, University of Chicago, Chicago, Illinois, USA. [2] Department of Health Studies, University of Chicago, Chicago, Illinois, USA. [3] Department of Medicine, University of Chicago, Chicago, Illinois, USA. [4] Department of Human Genetics, University of Chicago, Chicago, Illinois, USA. [5] Comprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA.
19
1] Center for Cancer Epidemiology and Prevention, University of Chicago, Chicago, Illinois, USA. [2] Department of Health Studies, University of Chicago, Chicago, Illinois, USA.
20
1] Department of Health Research and Policy-Epidemiology, Stanford University School of Medicine, Stanford, California, USA. [2] Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, USA.
21
1] Department of Health Research and Policy-Epidemiology, Stanford University School of Medicine, Stanford, California, USA. [2] Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, USA. [3] Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA.
22
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
23
Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
24
Department of Environmental Health Sciences, Columbia University Mailman School of Public Health, New York, New York, USA.
25
Cancer Registry of Norway, Oslo, Norway.
26
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, Melbourne School of Population Health, Melbourne, Victoria, Australia.
27
Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
28
Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
29
Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii, USA.
30
Department of Radiation Oncology and Molecular Radiation Sciences, Johns Hopkins Medicine, Baltimore, Maryland, USA.
31
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.
32
1] Vesalius Research Center, VIB, Leuven, Belgium. [2] Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium.
33
Multidisciplinary Breast Center, University Hospitals Leuven, Leuven, Belgium.
34
Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
35
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
36
Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
37
Department of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Amsterdam, the Netherlands.
38
Division of Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
39
Human Genetics Division, Genome Institute of Singapore, Singapore.
40
1] Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea. [2] Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea. [3] Cancer Research Institute, Seoul National University, Seoul, Korea.
41
1] Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea. [2] Cancer Research Institute, Seoul National University, Seoul, Korea.
42
Seoul National University College of Medicine, Seoul, Korea.
43
Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan.
44
Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.
45
Department of Breast Oncology, Aichi Cancer Center Hospital, Nagoya, Japan.
46
Epidemiology Center for Disease Control and Prevention, Mie University Hospital, Tsu, Japan.
47
1] INSERM), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, Villejuif, France. [2] University Paris-Sud, UMRS 1018, Villejuif, France.
48
Université Paris Sorbonne Cité, UMRS 775, INSERM, Paris, France.
49
1] Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany. [2] Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
50
1] Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany. [2] National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.
51
Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
52
Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
53
1] Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. [2] Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
54
Servicio de Oncología Médica, Hospital Universitario La Paz, Madrid, Spain.
55
Servicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain.
56
Department of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
57
Shanghai Center for Disease Control and Prevention, Changning, China.
58
Department of Epidemiology, Shanghai Cancer Institute, Shanghai, China.
59
1] Sheffield Cancer Research Centre, University of Sheffield, Sheffield, UK. [2] Department of Oncology, University of Sheffield, Sheffield, UK.
60
Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
61
1] Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada. [2] Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
62
1] Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada. [2] Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
63
Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
64
1] Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada. [2] Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.
65
Research Oncology, Division of Cancer Studies, King's College London, Guy's Hospital, London, UK.
66
1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. [2] Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
67
Department of Surgery, School of Medicine, National University of Ireland, Galway, Ireland.
68
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
69
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
70
1] Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia. [2] Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia.
71
Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia.
72
Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
73
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
74
1] Department of Medicine, Division of Epidemiology, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. [2] International Epidemiology Institute, Rockville, Maryland, USA.
75
Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
76
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.
77
Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia.
78
1] Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [2] Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [3] School of Public Health, China Medical University, Taichung, Taiwan.
79
Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
80
1] Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. [2] Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
81
1] Cancer Center, Kaohsiung Medical University Chung-Ho Memorial Hospital, Kaohsiung, Taiwan. [2] Department of Surgery, Kaohsiung Medical University Chung-Ho Memorial Hospital, Kaohsiung, Taiwan.
82
1] Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway. [2] Institute of Clinical Medicine, University of Oslo, Oslo, Norway. [3] Department of Clinical Molecular Biology (EpiGen), University of Oslo, Oslo, Norway.
83
Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.
84
1] Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia. [2] Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Victoria, Australia.
85
Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia.
86
Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
87
1] Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA. [2] Bureau of Epidemiologic Research, Academy of Athens, Athens, Greece. [3] Hellenic Health Foundation, Athens, Greece.
88
1] Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center, Utrecht, the Netherlands. [2] Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
89
Department of Community Medicine, Faculty of Health Sciences, University of Tromsø, Arctic University of Norway, Tromsø, Norway.
90
Department of Surgical and Perioperative Sciences, Umea University, Umea, Sweden.
91
School of Clinical Medicine, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK.
92
Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
93
Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute, Istituto per lo Studio e la Prevenzione Oncologica (ISPO), Florence, Italy.
94
Section for Epidemiology, Aarhus University, Aarhus, Denmark.
95
1] INSERM Centre for Research in Epidemiology and Population Health (CESP), U1018, Nutrition, Hormones and Women's Health Team, Villejuif, France. [2] Université Paris-Sud, Villejuif, France.
96
Department of Epidemiology, Consejería de Sanidad y Política Social, CIBER de Epidemiología y Salud Pública, Murcia, Spain.
97
Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.
98
1] Center for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, Cologne, Germany. [2] Center for Integrated Oncology (CIO), University Hospital Cologne, Cologne, Germany. [3] Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine, University of Cologne, Cologne, Germany.
99
Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
100
1] Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK. [2] Institute of Population Health, University of Manchester, Manchester, UK.
101
Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK.
102
Ministry of Public Health, Nonthaburi, Thailand.
103
1] Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore. [2] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.
104
Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore.
105
Division of General Surgery, National University Health System, Singapore.
106
1] Department of Gynecology and Obstetrics, University Breast Center Franconia, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center of the Erlangen-Nuremberg Metropolitan Region, Erlangen, Germany. [2] Department of Medicine, Division of Hematology and Oncology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
107
Department of Gynecology and Obstetrics, University Breast Center Franconia, University Hospital Erlangen, Friedrich Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center of the Erlangen-Nuremberg Metropolitan Region, Erlangen, Germany.
108
1] Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany. [2] German Cancer Consortium (DKTK), Heidelberg, Germany.
109
Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
110
Saarland Cancer Registry, Saarbrücken, Germany.
111
1] Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK. [2] Division of Breast Cancer Research, Institute of Cancer Research, London, UK.
112
1] Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK. [2] Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.
113
1] Department of Medicine, McGill University, Montreal, Quebec, Canada. [2] Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital, Montreal, Quebec, Canada.
114
1] Département de Santé Environnementale et Santé au Travail, Ecole de Santé Publique, Université de Montréal, Montreal, Quebec, Canada. [2] Département de Médecine Sociale et Préventive, Ecole de Santé Publique, Université de Montréal, Montreal, Quebec, Canada.
115
1] Centre Hospitalier Universitaire de Québec Research Center, Quebec City, Quebec, Canada. [2] Department of Molecular Medicine, Laval University, Quebec City, Quebec, Canada.
116
Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, NordLab Oulu/Oulu University Hospital, Oulu, Finland.
117
Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.
118
Department of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland.
119
1] German Cancer Consortium (DKTK), Heidelberg, Germany. [2] Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany. [3] University of Tübingen, Tübingen, Germany. [4] German Cancer Research Center (DKFZ), Heidelberg, Germany.
120
Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
121
Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany.
122
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 Tumori (INT), Milan, Italy.
123
Fondazione Istituto FIRC (Italian Foundation for Cancer Research) di Oncologia Molecolare (IFOM), Milan, Italy.
124
Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Milan, Italy.
125
1] Department of Experimental Oncology, Istituto Europeo di Oncologia, Milan, Italy. [2] Cogentech Cancer Genetic Test Laboratory, Milan, Italy.
126
Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.
127
Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
128
1] School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland. [2] Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland. [3] Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
129
1] Cancer Center, Kuopio University Hospital, Kuopio, Finland. [2] Central Finland Hospital District, Jyväskylä Central Hospital, Jyväskylä, Finland.
130
1] Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands. [2] Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
131
Department of Surgical Oncology, Leiden University Medical Center, Leiden, the Netherlands.
132
Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
133
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
134
Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
135
National Cancer Institute of Thailand, Bangkok, Thailand.
136
International Agency for Research on Cancer, Lyon, France.
137
Department of Molecular Virology, Immunology and Medical Genetics, Ohio State University, Columbus, Ohio, USA.
138
Roswell Park Cancer Institute, Buffalo, New York, USA.
139
Molecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products (IRRP), National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis, Athens, Greece.
140
1] Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany. [2] Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia.
141
Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA.
142
Department of Epidemiology, University of California-Irvine, Irvine, California, USA.
143
McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
144
1] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [2] Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

Abstract

Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.

Comment in

PMID:
25751625
PMCID:
PMC4549775
DOI:
10.1038/ng.3242
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center