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

Michailidou K 1 , Beesley J 2 , Lindstrom S 3 , Canisius S 4 , Dennis J 1 , Lush MJ 1 Show all authors , Maranian MJ 5 , Bolla MK 1 , Wang Q 1 , Shah M 5 , Perkins BJ 5 , Czene K 6 , Eriksson M 6 , Darabi H 6 , Brand JS 6 , Bojesen SE 7 , Nordestgaard BG 7 , Flyger H 8 , Nielsen SF 9 , Rahman N 10 , Turnbull C 10 , BOCS , Fletcher O 11 , Peto J 12 , Gibson L 12 , dos-Santos-Silva I 12 , Chang-Claude J 13 , Flesch-Janys D 14 , Rudolph A 13 , Eilber U 13 , Behrens S 13 , Nevanlinna H 15 , Muranen TA 15 , Aittomäki K 16 , Blomqvist C 17 , Khan S 15 , Aaltonen K 15 , Ahsan H 18 , Kibriya MG 19 , Whittemore AS 20 , John EM 21 , Malone KE 22 , Gammon MD 23 , Santella RM 24 , Ursin G 25 , Makalic E 26 , Schmidt DF 26 , Casey G 27 , Hunter DJ 3 , Gapstur SM 28 , Gaudet MM 28 , Diver WR 28 , Haiman CA 27 , Schumacher F 27 , Henderson BE 27 , Le Marchand L 29 , Berg CD 30 , Chanock SJ 31 , Figueroa J 31 , Hoover RN 31 , Lambrechts D 32 , Neven P 33 , Wildiers H 33 , van Limbergen E 33 , Schmidt MK 34 , Broeks A 34 , Verhoef S 34 , Cornelissen S 34 , Couch FJ 35 , Olson JE 36 , Hallberg E 36 , Vachon C 36 , Waisfisz Q 37 , Meijers-Heijboer H 37 , Adank MA 37 , van der Luijt RB 38 , Li J 6 , Liu J 39 , Humphreys K 6 , Kang D 40 , Choi JY 41 , Park SK 40 , Yoo KY 42 , Matsuo K 43 , Ito H 44 , Iwata H 45 , Tajima K 46 , Guénel P 47 , Truong T 47 , Mulot C 48 , Sanchez M 47 , Burwinkel B 49 , Marme F 50 , Surowy H 49 , Sohn C 51 , Wu AH 27 , Tseng CC 27 , Van Den Berg D 27 , Stram DO 27 , González-Neira A 52 , Benitez J 53 , Zamora MP 54 , Perez JI 55 , Shu XO 56 , Lu W 57 , Gao YT 58 , Cai H 56 , Cox A 59 , Cross SS 60 , Reed MW 59 , Andrulis IL 61 , Knight JA 62 , Glendon G 63 , Mulligan AM 64 , Sawyer EJ 65 , Tomlinson I 66 , Kerin MJ 67 , Miller N 67 , kConFab Investigators , AOCS Group , Lindblom A 68 , Margolin S 69 , Teo SH 70 , Yip CH 71 , Taib NA 71 , Tan GH 71 , Hooning MJ 72 , Hollestelle A 72 , Martens JW 72 , Collée JM 73 , Blot W 74 , Signorello LB 75 , Cai Q 56 , Hopper JL 76 , Southey MC 77 , Tsimiklis H 77 , Apicella C 76 , Shen CY 78 , Hsiung CN 79 , Wu PE 80 , Hou MF 81 , Kristensen VN 82 , Nord S 83 , Alnaes GI 83 , NBCS , Giles GG 84 , Milne RL 84 , McLean C 85 , Canzian F 86 , Trichopoulos D 87 , Peeters P 88 , Lund E 89 , Sund M 90 , Khaw KT 91 , Gunter MJ 92 , Palli D 93 , Mortensen LM 94 , Dossus L 95 , Huerta JM 96 , Meindl A 97 , Schmutzler RK 98 , Sutter C 99 , Yang R 49 , Muir K 100 , Lophatananon A 101 , Stewart-Brown S 101 , Siriwanarangsan P 102 , Hartman M 103 , Miao H 104 , Chia KS 104 , Chan CW 105 , Fasching PA 106 , Hein A 107 , Beckmann MW 107 , Haeberle L 107 , Brenner H 108 , Dieffenbach AK 108 , Arndt V 109 , Stegmaier C 110 , Ashworth A 11 , Orr N 11 , Schoemaker MJ 10 , Swerdlow AJ 111 , Brinton L 31 , Garcia-Closas M 112 , Zheng W 56 , Halverson SL 56 , Shrubsole M 56 , Long J 56 , Goldberg MS 113 , Labrèche F 114 , Dumont M 115 , Winqvist R 116 , Pylkäs K 116 , Jukkola-Vuorinen A 117 , Grip M 118 , Brauch H 119 , Hamann U 120 , Brüning T 121 , GENICA Network , Radice P 122 , Peterlongo P 123 , Manoukian S 124 , Bernard L 125 , Bogdanova NV 126 , Dörk T 127 , Mannermaa A 128 , Kataja V 129 , Kosma VM 128 , Hartikainen JM 128 , Devilee P 130 , Tollenaar RA 131 , Seynaeve C 132 , Van Asperen CJ 133 , Jakubowska A 134 , Lubinski J 134 , Jaworska K 134 , Huzarski T 134 , Sangrajrang S 135 , Gaborieau V 136 , Brennan P 136 , McKay J 136 , Slager S 36 , Toland AE 137 , Ambrosone CB 138 , Yannoukakos D 139 , Kabisch M 120 , Torres D 140 , Neuhausen SL 141 , Anton-Culver H 142 , Luccarini C 5 , Baynes C 5 , Ahmed S 5 , Healey CS 5 , Tessier DC 143 , Vincent D 143 , Bacot F 143 , Pita G 52 , Alonso MR 52 , Álvarez N 52 , Herrero D 52 , Simard J 115 , Pharoah PP 144 , Kraft P 3 , Dunning AM 5 , Chenevix-Trench G 2 , Hall P 6 , Easton DF 144

Affiliations 

  • 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
Nat Genet, 2015 Apr;47(4):373-80.
PMID: 25751625 DOI: 10.1038/ng.3242

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.

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

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