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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Zhang H 1 , Ahearn TU 1 , Lecarpentier J 2 , Barnes D 2 , Beesley J 3 , Qi G 4 Show all authors , Jiang X 5 , O'Mara TA 3 , Zhao N 4 , Bolla MK 6 , Dunning AM 2 , Dennis J 6 , Wang Q 6 , Ful ZA 7 , Aittomäki K 8 , Andrulis IL 9 , Anton-Culver H 10 , Arndt V 11 , Aronson KJ 12 , Arun BK 13 , Auer PL 14 , Azzollini J 15 , Barrowdale D 16 , Becher H 17 , Beckmann MW 18 , Behrens S 19 , Benitez J 20 , Bermisheva M 21 , Bialkowska K 22 , Blanco A 23 , Blomqvist C 24 , Bogdanova NV 25 , Bojesen SE 26 , Bonanni B 27 , Bondavalli D 27 , Borg A 28 , Brauch H 29 , Brenner H 11 , Briceno I 30 , Broeks A 31 , Brucker SY 32 , Brüning T 33 , Burwinkel B 34 , Buys SS 35 , Byers H 36 , Caldés T 37 , Caligo MA 38 , Calvello M 27 , Campa D 19 , Castelao JE 39 , Chang-Claude J 19 , Chanock SJ 1 , Christiaens M 40 , Christiansen H 41 , Chung WK 42 , Claes KBM 43 , Clarke CL 44 , Cornelissen S 31 , Couch FJ 45 , Cox A 46 , Cross SS 47 , Czene K 48 , Daly MB 49 , Devilee P 50 , Diez O 51 , Domchek SM 52 , Dörk T 53 , Dwek M 54 , Eccles DM 55 , Ekici AB 56 , Evans DG 36 , Fasching PA 18 , Figueroa J 57 , Foretova L 58 , Fostira F 59 , Friedman E 60 , Frost D 16 , Gago-Dominguez M 61 , Gapstur SM 62 , Garber J 63 , García-Sáenz JA 37 , Gaudet MM 62 , Gayther SA 64 , Giles GG 65 , Godwin AK 66 , Goldberg MS 67 , Goldgar DE 68 , González-Neira A 69 , Greene MH 70 , Gronwald J 22 , Guénel P 71 , Häberle L 72 , Hahnen E 73 , Haiman CA 74 , Hake CR 75 , Hall P 48 , Hamann U 76 , Harkness EF 77 , Heemskerk-Gerritsen BAM 78 , Hillemanns P 53 , Hogervorst FBL 79 , Holleczek B 80 , Hollestelle A 78 , Hooning MJ 78 , Hoover RN 1 , Hopper JL 81 , Howell A 82 , Huebner H 18 , Hulick PJ 83 , Imyanitov EN 84 , kConFab Investigators , ABCTB Investigators , Isaacs C 85 , Izatt L 86 , Jager A 78 , Jakimovska M 87 , Jakubowska A 22 , James P 88 , Janavicius R 89 , Janni W 90 , John EM 91 , Jones ME 92 , Jung A 19 , Kaaks R 19 , Kapoor PM 19 , Karlan BY 93 , Keeman R 31 , Khan S 94 , Khusnutdinova E 21 , Kitahara CM 95 , Ko YD 96 , Konstantopoulou I 59 , Koppert LB 97 , Koutros S 1 , Kristensen VN 98 , Laenkholm AV 99 , Lambrechts D 100 , Larsson SC 101 , Laurent-Puig P 102 , Lazaro C 103 , Lazarova E 104 , Lejbkowicz F 7 , Leslie G 6 , Lesueur F 105 , Lindblom A 106 , Lissowska J 107 , Lo WY 29 , Loud JT 70 , Lubinski J 22 , Lukomska A 22 , MacInnis RJ 65 , Mannermaa A 108 , Manoochehri M 76 , Manoukian S 15 , Margolin S 109 , Martinez ME 110 , Matricardi L 111 , McGuffog L 6 , McLean C 112 , Mebirouk N 113 , Meindl A 114 , Menon U 115 , Miller A 116 , Mingazheva E 117 , Montagna M 111 , Mulligan AM 118 , Mulot C 102 , Muranen TA 94 , Nathanson KL 52 , Neuhausen SL 119 , Nevanlinna H 94 , Neven P 40 , Newman WG 36 , Nielsen FC 120 , Nikitina-Zake L 121 , Nodora J 110 , Offit K 122 , Olah E 123 , Olopade OI 124 , Olsson H 125 , Orr N 126 , Papi L 127 , Papp J 123 , Park-Simon TW 53 , Parsons MT 3 , Peissel B 15 , Peixoto A 128 , Peshkin B 129 , Peterlongo P 130 , Peto J 6 , Phillips KA 81 , Piedmonte M 116 , Plaseska-Karanfilska D 87 , Prajzendanc K 22 , Prentice R 14 , Prokofyeva D 117 , Rack B 90 , Radice P 131 , Ramus SJ 132 , Rantala J 133 , Rashid MU 76 , Rennert G 7 , Rennert HS 7 , Risch HA 134 , Romero A 135 , Rookus MA 136 , Rübner M 72 , Rüdiger T 137 , Saloustros E 138 , Sampson S 139 , Sandler DP 140 , Sawyer EJ 141 , Scheuner MT 142 , Schmutzler RK 73 , Schneeweiss A 143 , Schoemaker MJ 92 , Schöttker B 11 , Schürmann P 53 , Senter L 144 , Sharma P 145 , Sherman ME 146 , Shu XO 147 , Singer CF 148 , Smichkoska S 104 , Soucy P 149 , Southey MC 150 , Spinelli JJ 151 , Stone J 81 , Stoppa-Lyonnet D 152 , EMBRACE Study , GEMO Study Collaborators , Swerdlow AJ 92 , Szabo CI 153 , Tamimi RM 5 , Tapper WJ 154 , Taylor JA 140 , Teixeira MR 128 , Terry M 155 , Thomassen M 156 , Thull DL 157 , Tischkowitz M 158 , Toland AE 159 , Tollenaar RAEM 160 , Tomlinson I 161 , Torres D 76 , Troester MA 162 , Truong T 71 , Tung N 163 , Untch M 164 , Vachon CM 165 , van den Ouweland AMW 166 , van der Kolk LE 79 , van Veen EM 36 , vanRensburg EJ 167 , Vega A 23 , Wappenschmidt B 73 , Weinberg CR 168 , Weitzel JN 169 , Wildiers H 40 , Winqvist R 170 , Wolk A 171 , Yang XR 1 , Yannoukakos D 59 , Zheng W 147 , Zorn KK 172 , Milne RL 65 , Kraft P 5 , Simard J 149 , Pharoah PDP 2 , Michailidou K 6 , Antoniou AC 6 , Schmidt MK 31 , Chenevix-Trench G 3 , Easton DF 2 , Chatterjee N 173 , García-Closas M 1

Affiliations 

  • 1 Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Department of Health and Human Services, Bethesda, MD, USA
  • 2 Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK
  • 3 Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
  • 4 Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
  • 5 Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA
  • 6 Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
  • 7 Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel
  • 8 Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  • 9 Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
  • 10 Department of Epidemiology, Genetic Epidemiology Research Institute, University of California, Irvine, Irvine, CA, USA
  • 11 Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany
  • 12 Department of Public Health Sciences and Cancer Research Institute, Queen's University, Kingston, Ontario, Canada
  • 13 Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA
  • 14 Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
  • 15 Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy
  • 16 Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK
  • 17 Institute of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • 18 Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nuremberg, Erlangen, Germany
  • 19 Division of Cancer Epidemiology, DKFZ, Heidelberg, Germany
  • 20 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain
  • 21 Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia
  • 22 Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
  • 23 Molecular Medicine Unit, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain
  • 24 Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  • 25 N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus
  • 26 Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
  • 27 Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO) IRCCS, Milan, Italy
  • 28 Department of Oncology, Lund University and Skåne University Hospital, Lund, Sweden
  • 29 Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany
  • 30 Bioscience Department, Faculty of Medicine, Universidad de la Sabana, Chia, Colombia
  • 31 Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands
  • 32 Department of Women's Health, University of Tübingen, Tübingen, Germany
  • 33 Institute for Prevention and Occupational Medicine of the German Social Accident Insurance (IPA), Ruhr University Bochum, Bochum, Germany
  • 34 Molecular Epidemiology Group (C080), DKFZ, Heidelberg, Germany
  • 35 Department of Medicine, Huntsman Cancer Institute, Salt Lake City, UT, USA
  • 36 Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester NIHR Biomedical Research Centre, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK
  • 37 Medical Oncology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain
  • 38 Section of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy
  • 39 Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain
  • 40 Leuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium
  • 41 Department of Radiation Oncology, Hannover Medical School, Hannover, Germany
  • 42 Departments of Pediatrics and Medicine, Columbia University, New York, NY, USA
  • 43 Centre for Medical Genetics, Ghent University, Ghent, Belgium
  • 44 Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia
  • 45 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
  • 46 Sheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK
  • 47 Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK
  • 48 Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
  • 49 Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA
  • 50 Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands
  • 51 Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain
  • 52 Department of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
  • 53 Gynaecology Research Unit, Hannover Medical School, Hannover, Germany
  • 54 Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK
  • 55 Cancer Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK
  • 56 Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center ER-EMN, Erlangen, Germany
  • 57 Usher Institute of Population Health Sciences and Informatics, University of Edinburgh Medical School, Edinburgh, UK
  • 58 Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic
  • 59 Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece
  • 60 The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel
  • 61 Genomic Medicine Group, Galician Foundation of Genomic Medicine, IDIS, Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain
  • 62 Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA, USA
  • 63 Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA, USA
  • 64 Center for Bioinformatics and Functional Genomics and the Cedars-Sinai Genomics Core, Cedars-Sinai Medical Center, Los Angeles, CA, USA
  • 65 Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia
  • 66 Department of Pathology and Laboratory Medicine, Kansas University Medical Center, Kansas City, KS, USA
  • 67 Department of Medicine, McGill University, Montréal, Québec, Canada
  • 68 Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA
  • 69 Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain
  • 70 Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
  • 71 Cancer and Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University of Paris-Saclay, Paris, France
  • 72 Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center ER-EMN, Erlangen, Germany
  • 73 Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
  • 74 Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA
  • 75 Waukesha Memorial Hospital Pro Health Care, Waukesha, WI, USA
  • 76 Molecular Genetics of Breast Cancer, DKFZ, Heidelberg, Germany
  • 77 Division of Informatics, Imaging and Data Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK
  • 78 Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, the Netherlands
  • 79 Family Cancer Clinic, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands
  • 80 Saarland Cancer Registry, Saarbrücken, Germany
  • 81 Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia
  • 82 Division of Cancer Sciences, University of Manchester, Manchester, UK
  • 83 Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA
  • 84 N.N. Petrov Institute of Oncology, St. Petersburg, Russia
  • 85 Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA
  • 86 Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK
  • 87 Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia
  • 88 Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia
  • 89 Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania
  • 90 Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany
  • 91 Department of Medicine, Division of Oncology, Stanford Cancer Institute, School of Medicine, Stanford University, Stanford, CA, USA
  • 92 Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK
  • 93 David Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, Los Angeles, CA, USA
  • 94 Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
  • 95 Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
  • 96 Department of Internal Medicine, Evangelische Kliniken Bonn, Johanniter Krankenhaus, Bonn, Germany
  • 97 Department of Surgical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, the Netherlands
  • 98 Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway
  • 99 Department of Surgical Pathology, Zealand University Hospital, Slagelse, Denmark
  • 100 VIB Center for Cancer Biology, VIB, Leuven, Belgium
  • 101 Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
  • 102 Université Paris Sorbonne Cité, INSERM UMR-S1147, Paris, France
  • 103 Molecular Diagnostic Unit, Hereditary Cancer Program, Bellvitge Biomedical Research Institute (IDIBELL), Catalan Institute of Oncology (ICO), CIBERONC, Barcelona, Spain
  • 104 Ss. Cyril and Methodius University in Skopje, Medical Faculty, University Clinic of Radiotherapy and Oncology, Skopje, Republic of North Macedonia
  • 105 Genetic Epidemiology of Cancer Team, INSERM U900, Paris, France
  • 106 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
  • 107 Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Cancer Center, Oncology Institute, Warsaw, Poland
  • 108 Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland
  • 109 Department of Oncology, Södersjukhuset, Stockholm, Sweden
  • 110 Moores Cancer Center, University of California, San Diego, La Jolla, CA, USA
  • 111 Immunology and Molecular Oncology Unit, Veneto Institute of Oncology (IOV)-IRCCS, Padua, Italy
  • 112 Department of Anatomical Pathology, The Alfred Hospital, Melbourne, Victoria, Australia
  • 113 Genetic Epidemiology of Cancer Team, INSERM U900, Institut Curie, PSL University, Mines ParisTech, Paris, France
  • 114 Department of Gynecology and Obstetrics, Ludwig Maximilian University of Munich, Munich, Germany
  • 115 MRC Clinical Trials Unit at UCL, Institute of Clinical Trials and Methodology, University College London, London, UK
  • 116 NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, NY, USA
  • 117 Department of Genetics and Fundamental Medicine, Bashkir State Medical University, Ufa, Russia
  • 118 Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada
  • 119 Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA
  • 120 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
  • 121 Latvian Biomedical Research and Study Centre, Riga, Latvia
  • 122 Clinical Genetics Research Laboratory, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA
  • 123 Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary
  • 124 Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA
  • 125 Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden
  • 126 Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, Northern Ireland, UK
  • 127 Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy
  • 128 Department of Genetics, Portuguese Oncology Institute, Porto, Portugal
  • 129 Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA
  • 130 Genome Diagnostics Program, IFOM, FIRC Institute of Molecular Oncology, Milan, Italy
  • 131 Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, INT, Milan, Italy
  • 132 Adult Cancer Program, Lowy Cancer Research Centre, University of NSW Sydney, Sydney, New South Wales, Australia
  • 133 Clinical Genetics, Karolinska Institutet, Stockholm, Sweden
  • 134 Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, USA
  • 135 Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain
  • 136 Department of Epidemiology, The Netherlands Cancer Institute, Amsterdam, the Netherlands
  • 137 Institute of Pathology, Staedtisches Klinikum Karlsruhe, Karlsruhe, Germany
  • 138 Department of Oncology, University Hospital of Larissa, Larissa, Greece
  • 139 Prevent Breast Cancer Centre and Nightingale Breast Screening Centre, Manchester University NHS Foundation Trust, Manchester, UK
  • 140 Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Durham, NC, USA
  • 141 Research Oncology, Guy's Hospital, King's College London, London, UK
  • 142 Cancer Genetics and Prevention Program, University of California, San Francisco, San Francisco, CA, USA
  • 143 Molecular Biology of Breast Cancer, University Women's Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany
  • 144 Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA
  • 145 Department of Internal Medicine, Division of Oncology, University of Kansas Medical Center, Westwood, Kansas City, KS, USA
  • 146 Department of Health Sciences Research, Mayo Clinic College of Medicine, Jacksonville, FL, USA
  • 147 Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA
  • 148 Department of Obstetrics and Gynecology and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria
  • 149 Genomics Center, Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Québec City, Québec, Canada
  • 150 Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Victoria, Australia
  • 151 Population Oncology, BC Cancer, Vancouver, British Columbia, Canada
  • 152 Department of Genetics, INSERM U830, Institut Curie, Paris Descartes Sorbonne-Paris Cité University, Paris, France
  • 153 National Human Genome Research Institute, National Cancer Institute, Bethesda, MD, USA
  • 154 Faculty of Medicine, University of Southampton, Southampton, UK
  • 155 Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA
  • 156 Department of Clinical Genetics, Odense University Hospital, Odense, Denmark
  • 157 Department of Medicine, Magee-Womens Hospital, School of Medicine, University of Pittsburgh , Pittsburgh, PA, USA
  • 158 Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, Québec, Canada
  • 159 Department of Cancer Biology and Genetics, The Ohio State University, Columbus, OH, USA
  • 160 Department of Surgery, Leiden University Medical Center, Leiden, the Netherlands
  • 161 Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK
  • 162 Department of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
  • 163 Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA
  • 164 Department of Gynecology and Obstetrics, Helios Clinics Berlin-Buch, Berlin, Germany
  • 165 Department of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA
  • 166 Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands
  • 167 Department of Genetics, University of Pretoria, Pretoria, South Africa
  • 168 Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Durham, NC, USA
  • 169 Clinical Cancer Genomics, City of Hope, Duarte, CA, USA
  • 170 Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland
  • 171 Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland
  • 172 Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
  • 173 Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. nchatte2@jhu.edu
Nat Genet, 2020 06;52(6):572-581.
PMID: 32424353 DOI: 10.1038/s41588-020-0609-2

Abstract

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P 

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

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