Letter | Published:

Genome-wide association studies identify four ER negative–specific breast cancer risk loci

Nature Genetics volume 45, pages 392398 (2013) | Download Citation

Abstract

Estrogen receptor (ER)-negative tumors represent 20–30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry1. The etiology2 and clinical behavior3 of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition4. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10−12 and LGR6, P = 1.4 × 10−8), 2p24.1 (P = 4.6 × 10−8) and 16q12.2 (FTO, P = 4.0 × 10−8), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.

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References

  1. 1.

    & Rates for breast cancer characteristics by estrogen and progesterone receptor status in the major racial/ethnic groups. Breast Cancer Res. Treat. 74, 199–211 (2002).

  2. 2.

    et al. Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J. Natl. Cancer Inst. 103, 250–263 (2011).

  3. 3.

    et al. Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies. PLoS Med. 7, e1000279 (2010).

  4. 4.

    , , & Genetic susceptibility to breast cancer. Mol. Oncol. 4, 174–191 (2010).

  5. 5.

    et al. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer. Nat. Genet. 43, 1210–1214 (2011).

  6. 6.

    et al. 19p13.1 is a triple negative–specific breast cancer susceptibility locus. Cancer Res. 72, 1795–1803 (2012).

  7. 7.

    et al. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum. Mol. Genet. 21, 5373–5384 (2012).

  8. 8.

    et al. Large-scale genotyping identifies 41 new breast cancer susceptibility loci. Nat. Genet. published online; doi:10.1038/ng.2563 (27 March 2013).

  9. 9.

    et al. Novel markers for differentiation of lobular and ductal invasive breast carcinomas by laser microdissection and microarray analysis. BMC Cancer 7, 55 (2007).

  10. 10.

    et al. Gene expression in histologically normal epithelium from breast cancer patients and from cancer-free prophylactic mastectomy patients shares a similar profile. Br. J. Cancer 102, 1284–1293 (2010).

  11. 11.

    & A small-molecule p53 activator induces apoptosis through inhibiting MDMX expression in breast cancer cells. Neoplasia 13, 611–619 (2011).

  12. 12.

    et al. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 9, e1003212 (2013).

  13. 13.

    et al. Altered tumor formation and evolutionary selection of genetic variants in the human MDM4 oncogene. Proc. Natl. Acad. Sci. USA 106, 10236–10241 (2009).

  14. 14.

    et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316, 889–894 (2007).

  15. 15.

    et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat. Genet. 42, 937–948 (2010).

  16. 16.

    et al. Multiple independent TERT variants associated with telomere length and risks of breast and ovarian cancer. Nat. Genet. published online; doi:10.1038/ng.2566 (27 March 2013).

  17. 17.

    et al. Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat. Comm. published online; doi:10.1038/ncomms2629 (27 March 2013).

  18. 18.

    et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat. Genet. 39, 870–874 (2007).

  19. 19.

    , & ProbABEL package for genome-wide association analysis of imputed data. BMC Bioinformatics 11, 134 (2010).

  20. 20.

    , & METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190–2191 (2010).

  21. 21.

    , , , & FunciSNP: an R/bioconductor tool integrating functional non-coding data sets with genetic association studies to identify candidate regulatory SNPs. Nucleic Acids Res. 40, e139 (2012).

Download references

Acknowledgements

The authors wish to thank all the individuals who took part in these studies and all the researchers, clinicians and administrative staff who have enabled this work to be carried out. We are very grateful to Illumina, in particular J. Stone, S. McBean, J. Hadlington, A. Mustafa and K. Cook, for their help with designing the array. BCAC is funded by Cancer Research UK (C1287/A10118 and C1287/A12014) and by the European Community's Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS). Meetings of BCAC have been funded by the European Union European Cooperation in Science and Technology (COST) programme (BM0606). BPC3 is funded by US National Cancer Institute cooperative agreements U01-CA98233, U01-CA98710, U01-CA98216 and U01-CA98758 and the Intramural Research Program of the US National Institutes of Health (NIH)/National Cancer Institute, Division of Cancer Epidemiology and Genetics. TNBCC is supported by Mayo Clinic Breast Cancer Study (MCBCS) (US NIH grants CA122340 and a Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201)), grants from the Komen Foundation for the Cure and the Breast Cancer Research Foundation. Genotyping on the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710), US NIH grant CA122340, the Komen Foundation for the Cure, the Breast Cancer Research Foundation, the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer program (J. Simiard and D.E.) and Ministry of Economic Development, Innovation and Export Trade of Quebec grant PSR-SIIRI-701 (J. Simiard, D.E. and P.H.). J. Simiard holds the Canada Research Chair in Oncogenetics. Combination of the GWAS data was supported in part by US NIH Cancer Post-Cancer GWAS initiative grant U19 CA 148065-01 (DRIVE, part of the GAME-ON initiative) and Breakthrough Breast Cancer Research.

Author information

Author notes

    • Robert M Millikan

    Deceased.

    • Montserrat Garcia-Closas
    • , Fergus J Couch
    • , Sara Lindstrom
    • , Kyriaki Michailidou
    •  & Marjanka K Schmidt

    These authors contributed equally to this work.

    • Paul D P Pharoah
    • , Celine Vachon
    • , Douglas F Easton
    • , Christopher A Haiman
    •  & Peter Kraft

    These authors jointly directed this work.

Affiliations

  1. Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.

    • Montserrat Garcia-Closas
    • , Mark N Brook
    • , Anthony Swerdlow
    • , Michael Jones
    • , Clare Turnbull
    •  & Nazneen Rahman
  2. Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK.

    • Montserrat Garcia-Closas
    • , Nick Orr
    • , Olivia Fletcher
    • , Nichola Johnson
    •  & Alan Ashworth
  3. Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota, USA.

    • Fergus J Couch
    • , Janet E Olson
    • , Xianshu Wang
    • , Kristen Stevens
    • , Curtis Olswold
    • , Susan Slager
    •  & Celine Vachon
  4. Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.

    • Sara Lindstrom
    • , Dimitrios Trichopoulos
    • , Constance Chen
    • , David J Hunter
    •  & Peter Kraft
  5. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

    • Kyriaki Michailidou
    • , Manjeet K Bolla
    • , Qin Wang
    • , Joe Dennis
    • , Ed Dicks
    •  & Douglas F Easton
  6. Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.

    • Marjanka K Schmidt
    • , Annegien Broeks
    • , Laura J Van't Veer
    •  & Emiel J Rutgers
  7. Department of Preventive Medicine, Keck School of Medicine, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, California, USA.

    • Suhn Kyong Rhie
    • , Anna H Wu
    • , Chiu-Chen Tseng
    • , David Van Den Berg
    • , Daniel O Stram
    • , Gerhard A Coetzee
    • , Ye Feng
    • , Brian E Henderson
    • , Fredrick Schumacher
    • , Gary K Chen
    • , Sue A Ingles
    •  & Christopher A Haiman
  8. School of Public Health, Imperial College, London, UK.

    • Elio Riboli
  9. Kaiser Permanente, Institute for Health Research, Denver, Colorado, USA.

    • Heather S Feigelson
  10. Epidemiology Program, Cancer Research Center, University of Hawaii, Honolulu, Hawaii, USA.

    • Loic Le Marchand
  11. Division of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.

    • Julie E Buring
    •  & Daniel I Chasman
  12. Faculty of Medicine, University of Southampton, Southampton, UK.

    • Diana Eccles
    • , Will Tapper
    • , Sue Gerty
    •  & Lorraine Durcan
  13. Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.

    • Penelope Miron
  14. Department of Gynecology and Obstetrics, University Breast Center Franconia, University Hospital Erlangen, Erlangen, Germany.

    • Peter A Fasching
    • , Michael G Schrauder
    • , Matthias W Beckmann
    • , Claudia Rauh
    • , Michael P Lux
    •  & Sebastian M Jud
  15. Jonsson Comprehensive Cancer Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.

    • Peter A Fasching
    •  & Dennis J Slamon
  16. Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany.

    • Hiltrud Brauch
    •  & Christina Justenhoven
  17. University of Tübingen, Tübingen, Germany.

    • Hiltrud Brauch
    •  & Christina Justenhoven
  18. Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

    • Jenny Chang-Claude
    • , Anja Rudolph
    • , Stefan Nickels
    • , Rebecca Hein
    • , Rudolf Kaaks
    • , Daniele Campa
    •  & Federico Canzian
  19. Australian Breast Cancer Tissue Bank, University of Sydney at the Westmead Millennium Institute, Westmead, New South Wales, Australia.

    • Jane Carpenter
  20. Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA.

    • Andrew K Godwin
    •  & Harsh Pathak
  21. Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

    • Heli Nevanlinna
    • , Taru A Muranen
    • , Dario Greco
    • , Tuomas Heikkinen
    •  & Kirsimari Aaltonen
  22. Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Victoria, Australia.

    • Graham G Giles
    • , Gianluca Severi
    •  & Laura Baglietto
  23. School of Population Health, The University of Melbourne, Melbourne, Victoria, Australia.

    • Graham G Giles
    • , Enes Makalic
    • , Daniel Schmidt
    •  & Minh Bui
  24. Cancer Research UK/Yorkshire Cancer Research Sheffield Cancer Research Centre, Department of Oncology, University of Sheffield, Sheffield, UK.

    • Angela Cox
    • , Sabapathy P Balasubramanian
    •  & Malcolm W R Reed
  25. Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Melbourne, Victoria, Australia.

    • John L Hopper
    • , Jennifer Stone
    • , Gianluca Severi
    • , Laura Baglietto
    • , Enes Makalic
    • , Daniel Schmidt
    •  & Minh Bui
  26. Cancer Research UK, Cambridge Research Institute, Li Ka Shing Centre, Cambridge, UK.

    • Will J Howat
  27. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

    • Nils Schoof
    • , Kamila Czene
    • , Elisabete Weiderpass
    •  & Per Hall
  28. Copenhagen General Population Study, Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.

    • Stig E Bojesen
    • , Børge G Nordestgaard
    •  & Sune F Nielsen
  29. Vesalius Research Center (VRC), VIB, Leuven, Belgium.

    • Diether Lambrechts
  30. Department of Oncology, University of Leuven, Leuven, Belgium.

    • Diether Lambrechts
  31. Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

    • Irene L Andrulis
  32. Ontario Cancer Genetics Network, Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.

    • Irene L Andrulis
    • , Julia A Knight
    •  & Gord Glendon
  33. University Paris–Sud, Unité Mixte de Recherche Scientifique (UMRS) 1018, Villejuif, France.

    • Pascal Guénel
    • , Therese Truong
    •  & Françoise Clavel-Chapelon
  34. INSERM (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), Environmental Epidemiology of Cancer, Villejuif, France.

    • Pascal Guénel
    • , Therese Truong
    •  & Françoise Clavel-Chapelon
  35. Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.

    • Barbara Burwinkel
    • , Federick Marme
    • , Andreas Schneeweiss
    •  & Christof Sohn
  36. Molecular Epidemiology Group, DKFZ, Heidelberg, Germany.

    • Barbara Burwinkel
  37. Division of Cancer Studies, National Institute for Health Research (NIHR) Comprehensive Biomedical Research Centre, Guy's & St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London, London, UK.

    • Elinor J Sawyer
  38. Department of Medical Oncology, Erasmus University Medical Center–Daniel Den Hoed Cancer Center, Rotterdam, The Netherlands.

    • Antoinette Hollestelle
    • , Caroline M Seynaeve
    • , Mieke Kriege
    •  & Maartje J Hooning
  39. Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Genetics, Biocenter Oulu, University of Oulu, Oulu University Hospital, Oulu, Finland.

    • Robert Winqvist
    •  & Katri Pylkäs
  40. Division of Clinical Epidemiology and Aging Research, DKFZ, Heidelberg, Germany.

    • Hermann Brenner
    • , Heiko Müller
    •  & Volker Arndt
  41. Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.

    • Arto Mannermaa
    • , Veli-Matti Kosma
    •  & Jaana M Hartikainen
  42. School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, Kuopio, Finland.

    • Arto Mannermaa
    • , Vesa Kataja
    • , Veli-Matti Kosma
    •  & Jaana M Hartikainen
  43. Biocenter Kuopio, Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland.

    • Arto Mannermaa
    • , Vesa Kataja
    • , Veli-Matti Kosma
    •  & Jaana M Hartikainen
  44. Molecular Genetics of Breast Cancer, DKFZ, Heidelberg, Germany.

    • Ute Hamann
  45. Division for Gynaecological Tumor Genetics, Clinic of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.

    • Alfons Meindl
  46. Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany.

    • Alfons Meindl
    •  & Magdalena Lochmann
  47. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

    • Annika Lindblom
  48. Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Division of Epidemiology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.

    • Wei Zheng
    • , Xiao-Ou Shu
    • , William Blot
    • , Martha Shrubsole
    • , Jirong Long
    • , Hui Cai
    • , Lisa Signorello
    •  & Sandra L Deming-Halverson
  49. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

    • Peter Devillee
  50. Department of Pathology, Erasmus University Medical Center, Rotterdam, The Netherlands.

    • Peter Devillee
    •  & Carolien H M van Deurzen
  51. Department of Medicine, McGill University, Montreal, Quebec, Canada.

    • Mark S Goldberg
  52. Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital, Montreal, Quebec, Canada.

    • Mark S Goldberg
    •  & Qiuyin Cai
  53. Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.

    • Jan Lubinski
    • , Anna Jakubowska
    • , Katarzyna Jaworska
    •  & Katarzyna Durda
  54. Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway.

    • Vessela Kristensen
  55. Faculty of Medicine (Faculty Division Ahus), Universitetet i Oslo, Oslo, Norway.

    • Vessela Kristensen
  56. Department of Epidemiology, University of California–Irvine, Irvine, California, USA.

    • Hoda Anton-Culver
  57. Department of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany.

    • Thilo Dörk
    •  & Natalia V Bogdanova
  58. Warwick Medical School, Warwick University, Coventry, UK.

    • Kenneth Muir
    • , Artitaya Lophatananon
    •  & Sarah Stewart-Brown
  59. Institute of Population Health, University of Manchester, Manchester, UK.

    • Kenneth Muir
  60. Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.

    • Keitaro Matsuo
    •  & Hidemi Ito
  61. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.

    • Paolo Radice
    •  & Paolo Peterlongo
  62. IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.

    • Paolo Radice
    •  & Paolo Peterlongo
  63. Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, University Malaya Cancer Research Institute, University Malaya, Kuala Lumpur, Malaysia.

    • Soo Hwang Teo
  64. Breast Cancer Research Unit, University Malaya Cancer Research Institute, University Malaya, Kuala Lumpur, Malaysia.

    • Soo Hwang Teo
    • , Cheng Har Yip
    •  & Nur Aishah Mohd Taib
  65. International Epidemiology Institute, Rockville, Maryland, USA.

    • William Blot
  66. Seoul National University College of Medicine, Seoul, Korea.

    • Daehee Kang
  67. Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.

    • Mikael Hartman
    •  & Ching-Yu Cheng
  68. Saw Swee Hock School of Public Health, National University of Singapore, Singapore.

    • Mikael Hartman
    • , Ching-Yu Cheng
    • , Hui Miao
    •  & Kee Seng Chia
  69. National Cancer Institute, Bangkok, Thailand.

    • Suleeporn Sangrajrang
  70. Colleague of Public Health, China Medical University, Taichong, Taiwan.

    • Chen-Yang Shen
  71. Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.

    • Chen-Yang Shen
    •  & Chia-Ni Hsiung
  72. Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia.

    • Melissa C Southey
    • , Daniel J Park
    •  & Fleur Hammet
  73. Ministry of Public Health, Bangkok, Thailand.

    • Pornthep Siriwanarangsan
  74. Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, London, UK.

    • Julian Peto
    • , Isabel dos Santos Silva
    • , Helen Warren
    •  & Lorna Gibson
  75. Institute of Human Genetics, Friedrich Alexander University Erlangen-Nuremberg, Erlangen, Germany.

    • Arif B Ekici
  76. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

    • Ian Tomlinson
  77. Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.

    • Ian Tomlinson
  78. Department of Surgery, Clinical Science Institute, University Hospital and National University of Ireland, Galway, Ireland.

    • Michael J Kerin
    •  & Nicola Miller
  79. National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany.

    • Federick Marme
    •  & Andreas Schneeweiss
  80. INSERM, Université Paris Sorbonne Cité, UMRS 775, Paris, France.

    • Pierre Laurent-Puig
  81. Centre Eugène Marquis, Department of Medical Oncology, Rennes, France.

    • Pierre Kerbrat
  82. Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark.

    • Henrik Flyger
  83. Genetic & Molecular Epidemiology Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

    • Roger L Milne
  84. Servicio de Cirugía General y Especialidades, Hospital Monte Naranco, Oviedo, Spain.

    • Jose Ignacio Arias Perez
  85. Servicio de Anatomía Patológica, Hospital Monte Naranco, Oviedo, Spain.

    • Primitiva Menéndez
  86. Saarland Cancer Registry, Saarbrücken, Germany.

    • Christa Stegmaier
  87. Institute of Human Genetics, Technische Universität München, Munich, Germany.

    • Peter Lichtner
  88. Institute of Human Genetics, Helmholtz Zentrum München–German Research Center for Environmental Health, Neuherberg, Germany.

    • Peter Lichtner
  89. Department of Internal Medicine, Evangelische Kliniken Bonn, Johanniter Krankenhaus, Bonn, Germany.

    • Yon-Dschun Ko
  90. Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.

    • Kristiina Aittomäki
    •  & Kirsimari Aaltonen
  91. Department of Oncology, Helsinki University Central Hospital, Helsinki, Finland.

    • Carl Blomqvist
    •  & Kirsimari Aaltonen
  92. Department of Breast Oncology, Aichi Cancer Center Hospital, Nagoya, Japan.

    • Hiroji Iwata
  93. Department of Pathology and Molecular Diagnostics, Aichi Cancer Center Hospital, Nagoya, Japan.

    • Yasushi Yatabe
  94. N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.

    • Natalia N Antonenkova
  95. Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.

    • Sara Margolin
  96. Cancer Center, Kuopio University Hospital, Kuopio, Finland.

    • Vesa Kataja
  97. Western Sydney Local Health District, Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.

    • Rosemary Balleine
  98. Nepean Blue Mountains Local Health District, Westmead Millennium Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.

    • Rosemary Balleine
  99. Multidisciplinary Breast Center, University Hospital Gasthuisberg, Department of Oncology, University of Leuven, Leuven, Belgium.

    • Patrick Neven
    • , Anne-Sophie Dieudonné
    •  & Karin Leunen
  100. Department of Cancer Epidemiology/Clinical Cancer Registry, University Clinic Hamburg-Eppendorf, Hamburg, Germany.

    • Dieter Flesch-Janys
  101. Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany.

    • Dieter Flesch-Janys
  102. Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS INT, Milan, Italy.

    • Bernard Peissel
  103. Department of Experimental Oncology, Istituto Europeo di Oncologia, Milan, Italy.

    • Loris Bernard
  104. Cogentech Cancer Genetic Test Laboratory, Milan, Italy.

    • Loris Bernard
  105. Department of Laboratory Medicine and Pathology, Division of Experimental Pathology, Mayo Clinic, Rochester, Minnesota, USA.

    • Xianshu Wang
  106. Department of Anatomical Pathology, The Alfred Hospital, Melbourne, Victoria, Australia.

    • Catriona McLean
  107. Department of Urology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.

    • Gerhard A Coetzee
  108. Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.

    • Natalia V Bogdanova
  109. Département de Médecine Sociale et Préventive, Département de Santé Environnementale et Santé au Travail, Université de Montréal, Montreal, Quebec, Canada.

    • France Labrèche
    •  & Laurence N Kolonel
  110. Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Quebec, Canada.

    • Martine Dumont
    •  & Jacques Simard
  111. Singapore Eye Research Institute, National University of Singapore, Singapore.

    • Ching-Yu Cheng
  112. Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland.

    • Arja Jukkola-Vuorinen
  113. Department of Pathology, Oulu University Hospital, University of Oulu, Oulu, Finland.

    • Saila Kauppila
  114. Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

    • Julia A Knight
  115. Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.

    • Julia A Knight
  116. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

    • Anna Marie Mulligan
  117. Department of Laboratory Medicine, Keenan Research Centre of the Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada.

    • Anna Marie Mulligan
  118. Department of Surgical Oncology, Leiden University Medical Center, Leiden, The Netherlands.

    • Robertus A E M Tollenaar
  119. Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.

    • Ans M W van den Ouweland
  120. Shanghai Center for Disease Control and Prevention, Shanghai, China.

    • Wei Lu
  121. Department of Epidemiology, Shanghai Cancer Institute, Shanghai, China.

    • Yu-Tang Gao
  122. Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.

    • Simon S Cross
  123. Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

    • Mitul Shah
    • , Alison M Dunning
    •  & Paul D P Pharoah
  124. Department of Surgery, National University Health System, Singapore.

    • Ching Wan Chan
  125. Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.

    • Pei-Ei Wu
  126. Department of Surgery, Tri-Service General Hospital, Taipei, Taiwan.

    • Jyh-Cherng Yu
  127. McGill University and Génome Québec Innovation Centre, Montreal, Québec, Canada.

    • Daniel C Tessier
    • , Daniel Vincent
    •  & Francois Bacot
  128. Human Genotyping Unit–CEGEN, Human Cancer Genetics Programme, CNIO, Madrid, Spain.

    • Anna González-Neira
    • , Guillermo Pita
    • , M Rosario Alonso
    •  & Javier Benitez
  129. Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York, USA.

    • Christine B Ambrosone
  130. The Cancer Institute of New Jersey, New Brunswick, New Jersey, USA.

    • Elisa V Bandera
  131. Cancer Prevention Institute of California, Fremont, California, USA.

    • Esther M John
  132. Department of Health Research and Policy, Division of Epidemiology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California, USA.

    • Esther M John
  133. Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, Florida, USA.

    • Jennifer J Hu
    •  & Jorge L Rodriguez-Gil
  134. Department of Epidemiology and Public Health, University of Miami Miller School of Medicine, Miami, Florida, USA.

    • Jennifer J Hu
    •  & Jorge L Rodriguez-Gil
  135. Division of Cancer Etiology, Department of Population Science, Beckman Research Institute, City of Hope, Duarte, California, USA.

    • Leslie Bernstein
  136. Department of Pathology, Keck School of Medicine, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, California, USA.

    • Michael F Press
  137. Epidemiology and Biostatistics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.

    • Regina G Ziegler
    • , Robert N Hoover
    • , Jonine D Figueroa
    • , Mark E Sherman
    •  & Stephen J Chanock
  138. Department of Epidemiology, Gillings School of Global Public Health, Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, Chapel Hill, North Carolina, USA.

    • Robert M Millikan
    •  & Sarah Nyante
  139. Section of Oncogenetics, Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

    • Quinten Waisfisz
    •  & Hanne Meijers-Heijboer
  140. Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia.

    • Helen Tsimiklis
  141. Statistical Genetics Research Group, Max Planck Institute of Psychiatry, Munich, Germany.

    • Bertram Müller-Myhsok
  142. Centre of Hereditary Breast and Ovarian Cancer, University Hospital, Cologne, Germany.

    • Rita K Schmutzler
  143. Centre of Integrated Oncology, University Hospital, Cologne, Germany.

    • Rita K Schmutzler
  144. PMV (Primärmedizinische Versorgung) Research Group, Department of Child and Adolescent Psychiatry and Psychotherapy, University of Cologne, Cologne, Germany.

    • Rebecca Hein
  145. Department of Psychiatry, University of Mainz, Mainz, Germany.

    • Norbert Dahmen
  146. Institute for Quality and Efficiency in Health Care (IQWiG), Cologne, Germany.

    • Lars Beckmann
  147. Human Genetics Division, Genome Institute of Singapore, Singapore.

    • Astrid Irwanto
    •  & Jianjun Liu
  148. Department of Internal Medicine and Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.

    • Andre G Uitterlinden
    •  & Fernando Rivadeneira
  149. Department of Internal Medicine, James Comprehensive Cancer Center, Ohio State University, Columbus, Ohio, USA.

    • Robert Pilarski
  150. Roswell Park Cancer Institute, Buffalo, New York, USA.

    • Foluso Ademuyiwa
  151. Molecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products (IRRP), National Centre for Scientific Research Demokritos, Aghia Paraskevi Attikis, Athens, Greece.

    • Irene Konstantopoulou
  152. QIMR GWAS Collective, Queensland Institute of Medical Research, Brisbane, Queensland, Australia.

    • Nicholas G Martin
    •  & Grant W Montgomery
  153. Department of Medicine, Division of Hematology and Oncology, University of California, Los Angeles, Los Angeles, California, USA.

    • Dennis J Slamon
  154. Institute for Prevention and Occupational Medicine of the German Social Accident Insurance (IPA), Bochum, Germany.

    • Thomas Bruning
  155. Biosample Repository, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA.

    • JoEllen Weaver
  156. Division of Hematology and Oncology, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA.

    • Priyanka Sharma
  157. Bureau of Epidemiologic Research, Academy of Athens, Athens, Greece.

    • Dimitrios Trichopoulos
  158. Hellenic Health Foundation, Athens, Greece.

    • Dimitrios Trichopoulos
  159. Cancer Registry, Histopathology Unit Civile MPArezzo Hospital, Ragusa, Italy.

    • Rosario Tumino
  160. Julius Center, University Medical Center Utrecht, Utrecht, The Netherlands.

    • Petra H Peeters
  161. Department of Community Medicine, University of Tromsø, Tromsø, Norway.

    • Elisabete Weiderpass
  162. Folkhälsan Research Cancer Centre, Helsinki, Finland.

    • Elisabete Weiderpass
  163. Cancer Registry of Norway, Oslo, Norway.

    • Elisabete Weiderpass
  164. Genetic Epidemiology Group, International Agency for Research on Cancer, World Health Organization, Lyon, France.

    • Mattias Johansson
  165. Clinical Gerontology Unit, University of Cambridge, Cambridge, UK.

    • Kay-Tee Khaw
  166. Cancer Epidemiology Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.

    • Ruth Travis
  167. Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

    • Andy Beck
  168. Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.

    • Andy Beck
  169. Division of Biostatistics and Epidemiology, School of Public Health and Health Sciences, University of Massachusetts, Amherst, Massachusetts, USA.

    • Susan E Hankinson
  170. Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.

    • Susan E Hankinson
  171. Division of Cancer Prevention, National Cancer Institute, Bethesda, Maryland, USA.

    • Christine D Berg
  172. Department of Cancer Epidemiology and Prevention, M Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.

    • Jolanta Lissowska
  173. Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.

    • Mia M Gaudet
    •  & W Ryan Diver
  174. Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts, USA.

    • Walter C Willett
  175. Human Genetics Group, CNIO, Madrid, Spain.

    • Javier Benitez
  176. Centro de Investigacion en Red de Enfermedades Raras (CIBERER), Madrid, Spain.

    • Javier Benitez
  177. Department of Genetics, Queensland Institute of Medical Research, Brisbane, Queensland, Australia.

    • Georgia Chenevix-Trench

Consortia

  1. The Gene ENvironmental Interaction and breast CAncer (GENICA) Network

    A list of members is provided in the Supplementary Note.

  2. kConFab Investigators

    A list of members is provided in the Supplementary Note.

  3. Familial Breast Cancer Study (FBCS)

    A list of members is provided in the Supplementary Note.

  4. Australian Breast Cancer Tissue Bank (ABCTB) Investigators

    A list of members is provided in the Supplementary Note.

Authors

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Contributions

M.G.-C., F.J.C., S.L., K. Michailidou, M.K.S., P.D.P.P., C.V., D.F.E., C.A.H. and P. Kraft formed the writing group and drafted the manuscript. M.G.-C. coordinated the writing group. F.J.C., S.L., K. Michaildou, D.F.E., C.A.H. and P. Kraft performed statistical analyses of GWAS data. M.G.-C. and M.N.B. performed statistical analyses of BCAC follow-up studies and meta-analyses. P. Kraft coordinated the BPC3 GWAS, and M.G.-C., E.R., H.S.F., L.L.M., J.E.B., W.C.W., D.J.H. and S.J.C. led individual studies in the BPC3 scan. F.J.C. and C.V. coordinated the TNBCC GWAS, and D.E., P. Miron, P.A.F., J.C.-C., J.C., A.A., H.N., H. Brauch and G.G.G. led individual studies in the TNBCC scan. D.E. coordinated the C-BCAC GWAS, and H.N., J.L.H., J.C.-C. and P.H. led individual studies in the C-BCAC scan. D.F.E. conceived and coordinated the synthesis of the iCOGS array and led BCAC. P.H. coordinated COGS, and J.B. led the BCAC genotyping working group. A.G.-N., G.P., M.R.A., D.V., F.B., D.C.T. and F.J.C. coordinated genotyping of the iCOGS array. M.G.-C., P.D.P.P. and M.K.S. led the pathology working group in BCAC. M.E.S. was the lead pathologist in BCAC. W.J.H. performed automated scoring of tissue microarrays. A.M.D. and G.C.-T. led the quality control working group. J.D. and N.O. provided bioinformatics support. S.K.R. and G.A.C. performed FunciSNP bioinformatics analyses. M.K.B. and Q. Wang provided data management support for BCAC. G.G., A.A., A. Broeks, A.B.E., A.C., U.H., A.-S.D., A.G.U., A.H., A.H.W., A.I., the ABCTB Investigators, A.J.-V., A.J., A.K.G., R.W., A. Lindblom, A. Lophatananon, A.M.D., A.M.M., A.M.W.v.d.O., A.R., A. Swerdlow, A. Schneeweiss, B.B., B.E.H., B.G.N., B.M.-M., B.P., C.B., C.B.A., C.-Y.C., C.C., C.D.B., C.-N.H., C.H.M.v.D., C.H.Y., C.J., C.M., C.M.S., C.O., C.R., C.-Y.S., C. Sohn, C. Stegmaier, C.-C.T., C.T., C.W.C., D.C., D.C.T., D.F.-J., D.G., D.I.C., D.J.P., D.J.S., D.K., D.L., D.O.S., D.S., D.T., D.V.D.B., E.D., C.V., E.J.R., E.J.S., E.M., E.M.J., E.V.B., E.W., F.A., FBCS, F.C.-C., F.C., F.H., F.L., F.M., F.R., F.S., G.A.C., G.C.-T., G.K.C., G.S., G.W.M., H.A.-C., H.C., H.F., H. Ito, H. Iwata, H. Müller, H. Miao, H.M.-H., H.P., H.T., H.W., I.d.S.S., I.K., I.L.A., I.T., J.A.K., J.D.F., J.E.O., J.I.A.P., J.J.H., J. Long, J. Lubinski, J. Liu, J. Lissowska, J.L.R.-G., J.M.H., J.P., J. Stone, J. Simard, J.W., J.-C.Y., K. Aittomäki, K. Aaltonen, K.C., K.D., K.J., K.-T.K., K.L., K. Muir, K. Matsuo, K.P., K.S., K.S.C., L. Bernard, L. Baglietto, L. Bernstein, L. Beckmann, L.D., L.G., L.J.V.V., L.N.K., L.S., M.B., M.C.S., M.D., M.F.P., M.G.S., M. Jones, M. Johansson, M.J.H., M.J.K., M.K., M.K.B., M.L., M.M.G., M.P.L., M. Shrubsole, M. Shah, M.W.B., M.W.R.R., N.A.M.T., N.D., N.G.M., N.J., N.M., N.N.A., N.R., N.S., N.V.B., O.F., P.G., P.H., P.H.P., P. Kerbrat, P.L.-P., P.L., P. Menénde, P.N., P.P., P.R., P. Siriwanarangsan, P. Sharma, P.-E.W., Q.C., Q. Wang, Q. Waisfisz, R.B., R.G.Z., R.H., R.K., R.K.S., R.L.M., R.M.M., R.N.H., R.P., R.A.E.M.T., R. Tumino, R. Travis, S.A.I., S.E.B., S.E.H., S.F.N., S.G., S.H.T., S.K., S.K.R., S.L.D.-H., S.M., S.M.J., S. Nickels, S. Nyante, S.P.B., S. Sangrajrang, S.S.-B., S. Slager, S.S.C., T.A.M., T.B., T.D., T.H., T.T., V.A., V. Kristensen, V. Kataja, V.-M.K., W.B., W.L., W.R.D., W.T., X.-O.S., X.W., Y.F., Y.-T.G., Y.-D.K. and Y.Y. contributed to GWAS and/or BCAC follow-up studies. M.G.-C., F.J.C., S.L., K. Michailidou, M.K.S., P.D.P.P., C.V., D.F.E., C.A.H., P. Kraft, M.N.B., E.R., H.S.F., L.L.M., J.E.B., W.C.W., D.J.H., S.J.C., D.E., P.A.F., J.C.-C., J.C., A. Broeks, H.N., H. Brauch, H. Brenner, G.P., G.G.G., J.L.H., P. Miron, J.B., A.G.-N., M.R.A., D.V., F.B., M.E.S., W.J.H., G.G., A.A., A. Beck, A.B.E., A.C., U.H., A.-S.D., A.G.U., A.H., A.H.W., A.I., the ABCTB Investigators, A.J.-V., A.J., A.K.G., R.W., A. Lindblom, A. Lophatananon, A.M.D., A.M.M., A.M.W.v.d.O., A.R., A. Swerdlow, A. Schneeweiss, B.B., B.E.H., B.G.N., B.M.-M., B.P., C.B., C.B.A., C.-Y.C., C.C., C.D.B., C.-N.H., C.H.M.v.D., C.H.Y., C.J., C.M., C.M.S., C.O., C.R., C.-Y.S., C. Sohn, C. Stegmaier, C.-C.T., C.T., C.W.C., D.C., D.C.T., D.F.-J., D.G., D.I.C., D.J.P., D.J.S., D.K., D.L., D.O.S., D.S., D.T., D.V.D.B., E.D., C.V., E.J.R., E.J.S., E.M., E.M.J., E.V.B., E.W., F.A., FBCS, F.C.-C., F.C., F.H., F.L., F.M., F.R., F.S., G.A.C., G.C.-T., G.K.C., G.S., G.W.M., H.A.-C., H.C., H.F., H. Ito, H. Iwata, H. Müller, H. Miao, H.M.-H., H.P., H.T., H.W., I.d.S.S., I.K., I.L.A., I.T., J.A.K., J.D., J.D.F., J.E.O., J.I.A.P., J.J.H., J. Long, J. Lubinski, J. Liu, J. Lissowska, J.L.R.-G., J.M.H., J.P., J. Stone, J. Simard, J.W., J.-C.Y., K. Aittomäki, K. Aaltonen, K.C., K.D., K.J., K.-T.K., K.L., K. Muir, K. Matsuo, K.P., K.S., K.S.C., L. Bernard, L. Baglietto, L. Bernstein, L. Beckmann, L.D., L.G., L.J.V.V., L.N.K., L.S., M.B., M.C.S., M.D., M.F.P., M.G.S., M.H., M. Jones, M. Johansson, M.J.H., M.J.K., M.K., M.K.B., M.L., M.M.G., M.P.L., M. Shrubsole, M. Shah, M.W.B., M.W.R.R., N.A.M.T., N.D., N.G.M., N.J., N.M., N.N.A., N.O., N.R., N.S., N.V.B., O.F., P.G., P.H., P.H.P., P. Kerbrat, P.L.-P., P.L., P. Menénde, P.N., P.P., P.R., P. Siriwanarangsan, P. Sharma, P.-E.W., Q.C., Q. Wang, Q. Waisfisz, R.B., R.G.Z., R.H., R.K., R.K.S., R.L.M., R.M.M., R.N.H., R.P., R.A.E.M.T., R. Tumino, R. Travis, S.A.I., S.E.B., S.E.H., S.F.N., S.G., S.H.T., S.K., S.K.R., S.L.D.-H., S.M., S.M.J., S. Nickels, S. Nyante, S.P.B., S. Sangrajrang, S.S.-B., S. Slager, S.S.C., T.A.M., T.B., T.D., T.H., T.T., V.A., V. Kristensen, V. Kataja, V.-M.K., W.B., W.L., W.R.D., W.T., X.-O.S., X.W., Y.F., Y.-T.G., Y.-D.K. A. Mannermaa, A. Meindl, W.Z., P.D., M.S.G. and Y.Y. provided critical review of the manuscript.

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The authors declare no competing financial interests.

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Correspondence to Montserrat Garcia-Closas.

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