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

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

Nature genetics

Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindström, Shirley Hui, Audrey Lemaçon, Penny Soucy, Joe Dennis, Xia Jiang, Asha Rostamianfar, Hilary Finucane, Manjeet K Bolla, Lesley McGuffog, Qin Wang, Cora M Aalfs, Marcia Adams, Julian Adlard, Simona Agata, Shahana Ahmed, Habibul Ahsan, Kristiina Aittomäki, Fares Al-Ejeh, Jamie Allen, Christine B Ambrosone, Christopher I Amos, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Norbert Arnold, Kristan J Aronson, Bernd Auber, Paul L Auer, Margreet G E M Ausems, Jacopo Azzollini, François Bacot, Judith Balmaña, Monica Barile, Laure Barjhoux, Rosa B Barkardottir, Myrto Barrdahl, Daniel Barnes, Daniel Barrowdale, Caroline Baynes, Matthias W Beckmann, Javier Benitez, Marina Bermisheva, Leslie Bernstein, Yves-Jean Bignon, Kathleen R Blazer, Marinus J Blok, Carl Blomqvist, William Blot, Kristie Bobolis, Bram Boeckx, Natalia V Bogdanova, Anders Bojesen, Stig E Bojesen, Bernardo Bonanni, Anne-Lise Børresen-Dale, Aniko Bozsik, Angela R Bradbury, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Brigitte Bressac-de Paillerets, Carole Brewer, Louise Brinton, Per Broberg, Angela Brooks-Wilson, Joan Brunet, Thomas Brüning, Barbara Burwinkel, Saundra S Buys, Jinyoung Byun, Qiuyin Cai, Trinidad Caldés, Maria A Caligo, Ian Campbell, Federico Canzian, Olivier Caron, Angel Carracedo, Brian D Carter, J Esteban Castelao, Laurent Castera, Virginie Caux-Moncoutier, Salina B Chan, Jenny Chang-Claude, Stephen J Chanock, Xiaoqing Chen, Ting-Yuan David Cheng, Jocelyne Chiquette, Hans Christiansen, Kathleen B M Claes, Christine L Clarke, Thomas Conner, Don M Conroy, Jackie Cook, Emilie Cordina-Duverger, Sten Cornelissen, Isabelle Coupier, Angela Cox, David G Cox, Simon S Cross, Katarina Cuk, Julie M Cunningham, Kamila Czene, Mary B Daly, Francesca Damiola, Hatef Darabi, Rosemarie Davidson, Kim De Leeneer, Peter Devilee, Ed Dicks, Orland Diez, Yuan Chun Ding, Nina Ditsch, Kimberly F Doheny, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Isabel Dos-Santos-Silva, Stéphane Dubois, Pierre-Antoine Dugué, Martine Dumont, Alison M Dunning, Lorraine Durcan, Miriam Dwek, Bernd Dworniczak, Diana Eccles, Ros Eeles, Hans Ehrencrona, Ursula Eilber, Bent Ejlertsen, Arif B Ekici, A Heather Eliassen, Christoph Engel, Mikael Eriksson, Laura Fachal, Laurence Faivre, Peter A Fasching, Ulrike Faust, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, William D Foulkes, Eitan Friedman, Lin Fritschi, Debra Frost, Marike Gabrielson, Pragna Gaddam, Marilie D Gammon, Patricia A Ganz, Susan M Gapstur, Judy Garber, Vanesa Garcia-Barberan, José A García-Sáenz, Mia M Gaudet, Marion Gauthier-Villars, Andrea Gehrig, Vassilios Georgoulias, Anne-Marie Gerdes, Graham G Giles, Gord Glendon, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Paul Goodfellow, Mark H Greene, Grethe I Grenaker Alnæs, Mervi Grip, Jacek Gronwald, Anne Grundy, Daphne Gschwantler-Kaulich, Pascal Guénel, Qi Guo, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Emily Hallberg, Ute Hamann, Nathalie Hamel, Susan Hankinson, Thomas V O Hansen, Patricia Harrington, Steven N Hart, Jaana M Hartikainen, Catherine S Healey, Alexander Hein, Sonja Helbig, Alex Henderson, Jane Heyworth, Belynda Hicks, Peter Hillemanns, Shirley Hodgson, Frans B Hogervorst, Antoinette Hollestelle, Maartje J Hooning, Bob Hoover, John L Hopper, Chunling Hu, Guanmengqian Huang, Peter J Hulick, Keith Humphreys, David J Hunter, Evgeny N Imyanitov, Claudine Isaacs, Motoki Iwasaki, Louise Izatt, Anna Jakubowska, Paul James, Ramunas Janavicius, Wolfgang Janni, Uffe Birk Jensen, Esther M John, Nichola Johnson, Kristine Jones, Michael Jones, Arja Jukkola-Vuorinen, Rudolf Kaaks, Maria Kabisch, Katarzyna Kaczmarek, Daehee Kang, Karin Kast, Renske Keeman, Michael J Kerin, Carolien M Kets, Machteld Keupers, Sofia Khan, Elza Khusnutdinova, Johanna I Kiiski, Sung-Won Kim, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela N Kristensen, Torben A Kruse, Ava Kwong, Anne-Vibeke Lænkholm, Yael Laitman, Fiona Lalloo, Diether Lambrechts, Keren Landsman, Christine Lasset, Conxi Lazaro, Loic Le Marchand, Julie Lecarpentier, Andrew Lee, Eunjung Lee, Jong Won Lee, Min Hyuk Lee, Flavio Lejbkowicz, Fabienne Lesueur, Jingmei Li, Jenna Lilyquist, Anne Lincoln, Annika Lindblom, Jolanta Lissowska, Wing-Yee Lo, Sibylle Loibl, Jirong Long, Jennifer T Loud, Jan Lubinski, Craig Luccarini, Michael Lush, Robert J MacInnis, Tom Maishman, Enes Makalic, Ivana Maleva Kostovska, Kathleen E Malone, Siranoush Manoukian, JoAnn E Manson, Sara Margolin, John W M Martens, Maria Elena Martinez, Keitaro Matsuo, Dimitrios Mavroudis, Sylvie Mazoyer, Catriona McLean, Hanne Meijers-Heijboer, Primitiva Menéndez, Jeffery Meyer, Hui Miao, Austin Miller, Nicola Miller, Gillian Mitchell, Marco Montagna, Kenneth Muir, Anna Marie Mulligan, Claire Mulot, Sue Nadesan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Ines Nevelsteen, Dieter Niederacher, Sune F Nielsen, Børge G Nordestgaard, Aaron Norman, Robert L Nussbaum, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, Kai-Ren Ong, Jan C Oosterwijk, Nick Orr, Ana Osorio, V Shane Pankratz, Laura Papi, Tjoung-Won Park-Simon, Ylva Paulsson-Karlsson, Rachel Lloyd, Inge Søkilde Pedersen, Bernard Peissel, Ana Peixoto, Jose I A Perez, Paolo Peterlongo, Julian Peto, Georg Pfeiler, Catherine M Phelan, Mila Pinchev, Dijana Plaseska-Karanfilska, Bruce Poppe, Mary E Porteous, Ross Prentice, Nadege Presneau, Darya Prokofieva, Elizabeth Pugh, Miquel Angel Pujana, Katri Pylkäs, Brigitte Rack, Paolo Radice, Nazneen Rahman, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Hedy S Rennert, Valerie Rhenius, Kerstin Rhiem, Andrea Richardson, Gustavo C Rodriguez, Atocha Romero, Jane Romm, Matti A Rookus, Anja Rudolph, Thomas Ruediger, Emmanouil Saloustros, Joyce Sanders, Dale P Sandler, Suleeporn Sangrajrang, Elinor J Sawyer, Daniel F Schmidt, Minouk J Schoemaker, Fredrick Schumacher, Peter Schürmann, Lukas Schwentner, Christopher Scott, Rodney J Scott, Sheila Seal, Leigha Senter, Caroline Seynaeve, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xin Sheng, Hermela Shimelis, Martha J Shrubsole, Xiao-Ou Shu, Lucy E Side, Christian F Singer, Christof Sohn, Melissa C Southey, John J Spinelli, Amanda B Spurdle, Christa Stegmaier, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Harald Surowy, Christian Sutter, Anthony Swerdlow, Csilla I Szabo, Rulla M Tamimi, Yen Y Tan, Jack A Taylor, Maria-Isabel Tejada, Maria Tengström, Soo H Teo, Mary B Terry, Daniel C Tessier, Alex Teulé, Kathrin Thöne, Darcy L Thull, Maria Grazia Tibiletti, Laima Tihomirova, Marc Tischkowitz, Amanda E Toland, Rob A E M Tollenaar, Ian Tomlinson, Ling Tong, Diana Torres, Martine Tranchant, Thérèse Truong, Kathy Tucker, Nadine Tung, Jonathan Tyrer, Hans-Ulrich Ulmer, Celine Vachon, Christi J van Asperen, David Van Den Berg, Ans M W van den Ouweland, Elizabeth J van Rensburg, Liliana Varesco, Raymonda Varon-Mateeva, Ana Vega, Alessandra Viel, Joseph Vijai, Daniel Vincent, Jason Vollenweider, Lisa Walker, Zhaoming Wang, Shan Wang-Gohrke, Barbara Wappenschmidt, Clarice R Weinberg, Jeffrey N Weitzel, Camilla Wendt, Jelle Wesseling, Alice S Whittemore, Juul T Wijnen, Walter Willett, Robert Winqvist, Alicja Wolk, Anna H Wu, Lucy Xia, Xiaohong R Yang, Drakoulis Yannoukakos, Daniela Zaffaroni, Wei Zheng, Bin Zhu, Argyrios Ziogas, Elad Ziv, Kristin K Zorn, Manuela Gago-Dominguez, Arto Mannermaa, Håkan Olsson, Manuel R Teixeira, Jennifer Stone, Kenneth Offit, Laura Ottini, Sue K Park, Mads Thomassen, Per Hall, Alfons Meindl, Rita K Schmutzler, Arnaud Droit, Gary D Bader, Paul D P Pharoah, Fergus J Couch, Douglas F Easton, Peter Kraft, Georgia Chenevix-Trench, Montserrat García-Closas, Marjanka K Schmidt, Antonis C Antoniou, Jacques Simard

Affiliations

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

PMID: 29058716 PMCID: PMC5808456 DOI: 10.1038/ng.3785

Abstract

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10

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