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

doi:10.1038/ng.3242

Meta-Analysis

. 2015 Apr;47(4):373-80.

doi: 10.1038/ng.3242. Epub 2015 Mar 9.

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

Kyriaki Michailidou¹, Jonathan Beesley², Sara Lindstrom³, Sander Canisius⁴, Joe Dennis¹, Michael J Lush¹, Mel J Maranian⁵, Manjeet K Bolla¹, Qin Wang¹, Mitul Shah⁵, Barbara J Perkins⁵, Kamila Czene⁶, Mikael Eriksson⁶, Hatef Darabi⁶, Judith S Brand⁶, Stig E Bojesen⁷, Børge G Nordestgaard⁷, Henrik Flyger⁸, Sune F Nielsen⁹, Nazneen Rahman¹⁰, Clare Turnbull¹⁰; BOCS; Olivia Fletcher¹¹, Julian Peto¹², Lorna Gibson¹², Isabel dos-Santos-Silva¹², Jenny Chang-Claude¹³, Dieter Flesch-Janys¹⁴, Anja Rudolph¹³, Ursula Eilber¹³, Sabine Behrens¹³, Heli Nevanlinna¹⁵, Taru A Muranen¹⁵, Kristiina Aittomäki¹⁶, Carl Blomqvist¹⁷, Sofia Khan¹⁵, Kirsimari Aaltonen¹⁵, Habibul Ahsan¹⁸, Muhammad G Kibriya¹⁹, Alice S Whittemore²⁰, Esther M John²¹, Kathleen E Malone²², Marilie D Gammon²³, Regina M Santella²⁴, Giske Ursin²⁵, Enes Makalic²⁶, Daniel F Schmidt²⁶, Graham Casey²⁷, David J Hunter³, Susan M Gapstur²⁸, Mia M Gaudet²⁸, W Ryan Diver²⁸, Christopher A Haiman²⁷, Fredrick Schumacher²⁷, Brian E Henderson²⁷, Loic Le Marchand²⁹, Christine D Berg³⁰, Stephen J Chanock³¹, Jonine Figueroa³¹, Robert N Hoover³¹, Diether Lambrechts³², Patrick Neven³³, Hans Wildiers³³, Erik van Limbergen³³, Marjanka K Schmidt³⁴, Annegien Broeks³⁴, Senno Verhoef³⁴, Sten Cornelissen³⁴, Fergus J Couch³⁵, Janet E Olson³⁶, Emily Hallberg³⁶, Celine Vachon³⁶, Quinten Waisfisz³⁷, Hanne Meijers-Heijboer³⁷, Muriel A Adank³⁷, Rob B van der Luijt³⁸, Jingmei Li⁶, Jianjun Liu³⁹, Keith Humphreys⁶, Daehee Kang⁴⁰, Ji-Yeob Choi⁴¹, Sue K Park⁴⁰, Keun-Young Yoo⁴², Keitaro Matsuo⁴³, Hidemi Ito⁴⁴, Hiroji Iwata⁴⁵, Kazuo Tajima⁴⁶, Pascal Guénel⁴⁷, Thérèse Truong⁴⁷, Claire Mulot⁴⁸, Marie Sanchez⁴⁷, Barbara Burwinkel⁴⁹, Frederik Marme⁵⁰, Harald Surowy⁴⁹, Christof Sohn⁵¹, Anna H Wu²⁷, Chiu-chen Tseng²⁷, David Van Den Berg²⁷, Daniel O Stram²⁷, Anna González-Neira⁵², Javier Benitez⁵³, M Pilar Zamora⁵⁴, Jose Ignacio Arias Perez⁵⁵, Xiao-Ou Shu⁵⁶, Wei Lu⁵⁷, Yu-Tang Gao⁵⁸, Hui Cai⁵⁶, Angela Cox⁵⁹, Simon S Cross⁶⁰, Malcolm W R Reed⁵⁹, Irene L Andrulis⁶¹, Julia A Knight⁶², Gord Glendon⁶³, Anna Marie Mulligan⁶⁴, Elinor J Sawyer⁶⁵, Ian Tomlinson⁶⁶, Michael J Kerin⁶⁷, Nicola Miller⁶⁷; kConFab Investigators; AOCS Group; Annika Lindblom⁶⁸, Sara Margolin⁶⁹, Soo Hwang Teo⁷⁰, Cheng Har Yip⁷¹, Nur Aishah Mohd Taib⁷¹, Gie-Hooi Tan⁷¹, Maartje J Hooning⁷², Antoinette Hollestelle⁷², John W M Martens⁷², J Margriet Collée⁷³, William Blot⁷⁴, Lisa B Signorello⁷⁵, Qiuyin Cai⁵⁶, John L Hopper⁷⁶, Melissa C Southey⁷⁷, Helen Tsimiklis⁷⁷, Carmel Apicella⁷⁶, Chen-Yang Shen⁷⁸, Chia-Ni Hsiung⁷⁹, Pei-Ei Wu⁸⁰, Ming-Feng Hou⁸¹, Vessela N Kristensen⁸², Silje Nord⁸³, Grethe I Grenaker Alnaes⁸³; NBCS; Graham G Giles⁸⁴, Roger L Milne⁸⁴, Catriona McLean⁸⁵, Federico Canzian⁸⁶, Dimitrios Trichopoulos⁸⁷, Petra Peeters⁸⁸, Eiliv Lund⁸⁹, Malin Sund⁹⁰, Kay-Tee Khaw⁹¹, Marc J Gunter⁹², Domenico Palli⁹³, Lotte Maxild Mortensen⁹⁴, Laure Dossus⁹⁵, Jose-Maria Huerta⁹⁶, Alfons Meindl⁹⁷, Rita K Schmutzler⁹⁸, Christian Sutter⁹⁹, Rongxi Yang⁴⁹, Kenneth Muir¹⁰⁰, Artitaya Lophatananon¹⁰¹, Sarah Stewart-Brown¹⁰¹, Pornthep Siriwanarangsan¹⁰², Mikael Hartman¹⁰³, Hui Miao¹⁰⁴, Kee Seng Chia¹⁰⁴, Ching Wan Chan¹⁰⁵, Peter A Fasching¹⁰⁶, Alexander Hein¹⁰⁷, Matthias W Beckmann¹⁰⁷, Lothar Haeberle¹⁰⁷, Hermann Brenner¹⁰⁸, Aida Karina Dieffenbach¹⁰⁸, Volker Arndt¹⁰⁹, Christa Stegmaier¹¹⁰, Alan Ashworth¹¹, Nick Orr¹¹, Minouk J Schoemaker¹⁰, Anthony J Swerdlow¹¹¹, Louise Brinton³¹, Montserrat Garcia-Closas¹¹², Wei Zheng⁵⁶, Sandra L Halverson⁵⁶, Martha Shrubsole⁵⁶, Jirong Long⁵⁶, Mark S Goldberg¹¹³, France Labrèche¹¹⁴, Martine Dumont¹¹⁵, Robert Winqvist¹¹⁶, Katri Pylkäs¹¹⁶, Arja Jukkola-Vuorinen¹¹⁷, Mervi Grip¹¹⁸, Hiltrud Brauch¹¹⁹, Ute Hamann¹²⁰, Thomas Brüning¹²¹; GENICA Network; Paolo Radice¹²², Paolo Peterlongo¹²³, Siranoush Manoukian¹²⁴, Loris Bernard¹²⁵, Natalia V Bogdanova¹²⁶, Thilo Dörk¹²⁷, Arto Mannermaa¹²⁸, Vesa Kataja¹²⁹, Veli-Matti Kosma¹²⁸, Jaana M Hartikainen¹²⁸, Peter Devilee¹³⁰, Robert A E M Tollenaar¹³¹, Caroline Seynaeve¹³², Christi J Van Asperen¹³³, Anna Jakubowska¹³⁴, Jan Lubinski¹³⁴, Katarzyna Jaworska¹³⁴, Tomasz Huzarski¹³⁴, Suleeporn Sangrajrang¹³⁵, Valerie Gaborieau¹³⁶, Paul Brennan¹³⁶, James McKay¹³⁶, Susan Slager³⁶, Amanda E Toland¹³⁷, Christine B Ambrosone¹³⁸, Drakoulis Yannoukakos¹³⁹, Maria Kabisch¹²⁰, Diana Torres¹⁴⁰, Susan L Neuhausen¹⁴¹, Hoda Anton-Culver¹⁴², Craig Luccarini⁵, Caroline Baynes⁵, Shahana Ahmed⁵, Catherine S Healey⁵, Daniel C Tessier¹⁴³, Daniel Vincent¹⁴³, Francois Bacot¹⁴³, Guillermo Pita⁵², M Rosario Alonso⁵², Nuria Álvarez⁵², Daniel Herrero⁵², Jacques Simard¹¹⁵, Paul P D P Pharoah¹⁴⁴, Peter Kraft³, Alison M Dunning⁵, Georgia Chenevix-Trench², Per Hall⁶, Douglas F Easton¹⁴⁴

Collaborators, Affiliations

Collaborators

Z Miedzybrodzka, P J Morrison, K-R Ong, A Donaldson, M Tischkowitz, A Fryer, J Berg, M Porteous, C Brewer, R Davidson, A Kumar, A Shaw, A F Brady, J Adlard, J Barwell, L Greenhalgh, G Evans, F Lalloo, A Henderson, N Shannon, L Walker, Morteza Aghmesheh, David Amor, Lesley Andrews, Yoland Antill, Shane Armitage, Leanne Arnold, Rosemary Balleine, Agnes Bankier, Patti Bastick, Jonathan Beesley, John Beilby, Barbara Bennett, Ian Bennett, Geoffrey Berry, Anneke Blackburn, Michael Bogwitz, Meagan Brennan, Melissa Brown, Michael Buckley, Matthew Burgess, Jo Burke, Phyllis Butow, Keith Byron, David Callen, Ian Campbell, Deepa Chauhan, Manisha Chauhan, Georgia Chenevix-Trench, Alice Christian, Christine Clarke, Alison Colley, Dick Cotton, Ashley Crook, James Cui, Bronwyn Culling, Margaret Cummings, Sarah-Jane Dawson, Anna deFazio, Martin Delatycki, Rebecca Dickson, Joanne Dixon, Alexander Dobrovic, Tracy Dudding, Ted Edkins, Stacey Edwards, Maurice Eisenbruch, Gelareh Farshid, Susan Fawcett, Andrew Fellows, Georgina Fenton, Michael Field, Frank Firgaira, James Flanagan, Jean Fleming, Peter Fong, John Forbes, Stephen Fox, Juliet French, Michael Friedlander, Clara Gaff, Mac Gardner, Mike Gattas, Peter George, Graham Giles, Grantley Gill, Jack Goldblatt, Sian Greening, Scott Grist, Eric Haan, Kate Hardie, Marion Harris, Stewart Hart, Nick Hayward, Sue Healey, Louise Heiniger, John Hopper, Evelyn Humphrey, Clare Hunt, Paul James, Mark Jenkins, Alison Jones, Rick Kefford, Alexa Kidd, Belinda Kiely, Judy Kirk, Jessica Koehler, James Kollias, Serguei Kovalenko, Sunil Lakhani, Amanda Leaming, Jennifer Leary, Jacqueline Lim, Geoff Lindeman, Lara Lipton, Liz Lobb, Graham Mann, Deborah Marsh, Sue Anne McLachlan, Bettina Meiser, Cliff Meldrum, Roger Milne, Gillian Mitchell, Beth Newman, Eveline Niedermayr, Sophie Nightingale, Shona O'Connell, Imelda O'Loughlin, Richard Osborne, Nick Pachter, Briony Patterson, Lester Peters, Kelly Phillips, Melanie Price, Lynne Purser, Tony Reeve, Jeanne Reeve, Robert Richards, Edwina Rickard, Bridget Robinson, Barney Rudzki, Mona Saleh, Elizabeth Salisbury, Joe Sambrook, Christobel Saunders, Jodi Saunus, Robyn Sayer, Elizabeth Scott, Rodney Scott, Clare Scott, Ram Seshadri, Adrienne Sexton, Raghwa Sharma, Andrew Shelling, Peter Simpson, Melissa Southey, Amanda Spurdle, Graeme Suthers, Pamela Sykes, Margaret Tassell, Donna Taylor, Jessica Taylor, Benjamin Thierry, Susan Thomas, Ella Thompson, Heather Thorne, Sharron Townshend, Alison Trainer, Lan Tran, Kathy Tucker, Janet Tyler, Jane Visvader, Logan Walker, Ian Walpole, Robin Ward, Paul Waring, Bev Warner, Graham Warren, Rachael Williams, Judy Wilson, Ingrid Winship, Kathy Wu, Mary Ann Young, D Bowtell, G Chenevix-Trench, A Green, P Webb, A deFazio, D Gertig, Wing-Yee Lo, Christina Justenhoven, Yon-Dschun Ko, Christian Baisch, Hans-Peter Fischer, Beate Pesch, Sylvia Rabstein, Anne Lotz, Volker Harth, Kristine Kleivi, Lars Ottestad, Rolf Kåresen, Anita Langerød, Ellen Schlichting, Marit Muri Holmen, Toril Sauer, Vilde Haakensen, Olav Engebråten, Bjørn Naume, Cecile E Kiserud, Kristin V Reinertsen, Åslaug Helland, Margit Riis, Ida Bukholm, Per Eystein Lønning, Anne-Lise Børresen-Dale

Affiliations

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

PMID: 25751625
PMCID: PMC4549775
DOI: 10.1038/ng.3242

Meta-Analysis

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

Kyriaki Michailidou et al. Nat Genet. 2015 Apr.

. 2015 Apr;47(4):373-80.

doi: 10.1038/ng.3242. Epub 2015 Mar 9.

Authors

Collaborators

Z Miedzybrodzka, P J Morrison, K-R Ong, A Donaldson, M Tischkowitz, A Fryer, J Berg, M Porteous, C Brewer, R Davidson, A Kumar, A Shaw, A F Brady, J Adlard, J Barwell, L Greenhalgh, G Evans, F Lalloo, A Henderson, N Shannon, L Walker, Morteza Aghmesheh, David Amor, Lesley Andrews, Yoland Antill, Shane Armitage, Leanne Arnold, Rosemary Balleine, Agnes Bankier, Patti Bastick, Jonathan Beesley, John Beilby, Barbara Bennett, Ian Bennett, Geoffrey Berry, Anneke Blackburn, Michael Bogwitz, Meagan Brennan, Melissa Brown, Michael Buckley, Matthew Burgess, Jo Burke, Phyllis Butow, Keith Byron, David Callen, Ian Campbell, Deepa Chauhan, Manisha Chauhan, Georgia Chenevix-Trench, Alice Christian, Christine Clarke, Alison Colley, Dick Cotton, Ashley Crook, James Cui, Bronwyn Culling, Margaret Cummings, Sarah-Jane Dawson, Anna deFazio, Martin Delatycki, Rebecca Dickson, Joanne Dixon, Alexander Dobrovic, Tracy Dudding, Ted Edkins, Stacey Edwards, Maurice Eisenbruch, Gelareh Farshid, Susan Fawcett, Andrew Fellows, Georgina Fenton, Michael Field, Frank Firgaira, James Flanagan, Jean Fleming, Peter Fong, John Forbes, Stephen Fox, Juliet French, Michael Friedlander, Clara Gaff, Mac Gardner, Mike Gattas, Peter George, Graham Giles, Grantley Gill, Jack Goldblatt, Sian Greening, Scott Grist, Eric Haan, Kate Hardie, Marion Harris, Stewart Hart, Nick Hayward, Sue Healey, Louise Heiniger, John Hopper, Evelyn Humphrey, Clare Hunt, Paul James, Mark Jenkins, Alison Jones, Rick Kefford, Alexa Kidd, Belinda Kiely, Judy Kirk, Jessica Koehler, James Kollias, Serguei Kovalenko, Sunil Lakhani, Amanda Leaming, Jennifer Leary, Jacqueline Lim, Geoff Lindeman, Lara Lipton, Liz Lobb, Graham Mann, Deborah Marsh, Sue Anne McLachlan, Bettina Meiser, Cliff Meldrum, Roger Milne, Gillian Mitchell, Beth Newman, Eveline Niedermayr, Sophie Nightingale, Shona O'Connell, Imelda O'Loughlin, Richard Osborne, Nick Pachter, Briony Patterson, Lester Peters, Kelly Phillips, Melanie Price, Lynne Purser, Tony Reeve, Jeanne Reeve, Robert Richards, Edwina Rickard, Bridget Robinson, Barney Rudzki, Mona Saleh, Elizabeth Salisbury, Joe Sambrook, Christobel Saunders, Jodi Saunus, Robyn Sayer, Elizabeth Scott, Rodney Scott, Clare Scott, Ram Seshadri, Adrienne Sexton, Raghwa Sharma, Andrew Shelling, Peter Simpson, Melissa Southey, Amanda Spurdle, Graeme Suthers, Pamela Sykes, Margaret Tassell, Donna Taylor, Jessica Taylor, Benjamin Thierry, Susan Thomas, Ella Thompson, Heather Thorne, Sharron Townshend, Alison Trainer, Lan Tran, Kathy Tucker, Janet Tyler, Jane Visvader, Logan Walker, Ian Walpole, Robin Ward, Paul Waring, Bev Warner, Graham Warren, Rachael Williams, Judy Wilson, Ingrid Winship, Kathy Wu, Mary Ann Young, D Bowtell, G Chenevix-Trench, A Green, P Webb, A deFazio, D Gertig, Wing-Yee Lo, Christina Justenhoven, Yon-Dschun Ko, Christian Baisch, Hans-Peter Fischer, Beate Pesch, Sylvia Rabstein, Anne Lotz, Volker Harth, Kristine Kleivi, Lars Ottestad, Rolf Kåresen, Anita Langerød, Ellen Schlichting, Marit Muri Holmen, Toril Sauer, Vilde Haakensen, Olav Engebråten, Bjørn Naume, Cecile E Kiserud, Kristin V Reinertsen, Åslaug Helland, Margit Riis, Ida Bukholm, Per Eystein Lønning, Anne-Lise Børresen-Dale

Affiliations

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

PMID: 25751625
PMCID: PMC4549775
DOI: 10.1038/ng.3242

Abstract

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

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Conflict of interest statement

Competing Financial Interests

The authors confirm that they have no competing financial interests

Figures

**Figure 1**
Histograms of the imputation r² a) Histogram of the imputation r² for the iCOGS for variants with MAF>0.05 b) Histogram of the imputation r² for the UK2 GWAS for variants with MAF>0.05 c) Histogram of the imputation r² for the iCOGS for variants with MAF<=0.05 d) Histogram of the imputation r² for the UK2 GWAS for variants with MAF<=0.05.

**Figure 2**
The chromosome 1 locus tagged by rs12405132 a) The Manhattan Plot displays the strength of genetic association (−log₁₀ P) versus chromosomal position (Mb), where each dot presents a genotyped (solid black dot) or imputed (red circle) SNP (in the iCOGS stage). The purple horizontal line represents the threshold for genome-wide significance (P=5×10⁻⁸). Gene structures are depicted as well as the location of SNPs with MAF>0.01 which were neither imputed reliably nor genotyped. b) Mammary cell enhancer locations as defined in Corradin et al., and Hnisz et al., are shown where elements overlapping the best associated SNPs are labelled with their predicted target genes. A subset of ChiA-PET interactions in MCF7 cells (mediated by either RNApolII or ERa) between enhancers and their target gene promoters are also shown.

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Comment in

Breast cancer susceptibility genes pile up.
[No authors listed] [No authors listed] Cancer Discov. 2015 Jun;5(6):OF6. doi: 10.1158/2159-8290.CD-NB2015-045. Epub 2015 Apr 7. Cancer Discov. 2015. PMID: 25851858

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1. Kamangar F, Dores GM, Anderson WF. Patterns of cancer incidence, mortality, and prevalence across five continents: defining priorities to reduce cancer disparities in different geographic regions of the world. J Clin Oncol. 2006;24:2137–50. - PubMed
1. Easton DF, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007;447:1087–93. - PMC - PubMed
1. Hunter DJ, et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet. 2007;39:870–4. - PMC - PubMed
1. Stacey SN, et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2008;40:703–6. - PubMed
1. Stacey SN, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2007;39:865–9. - PubMed

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[1] Kamangar F, Dores GM, Anderson WF. Patterns of cancer incidence, mortality, and prevalence across five continents: defining priorities to reduce cancer disparities in different geographic regions of the world. J Clin Oncol. 2006;24:2137–50. - PubMed

[2] Kamangar F, Dores GM, Anderson WF. Patterns of cancer incidence, mortality, and prevalence across five continents: defining priorities to reduce cancer disparities in different geographic regions of the world. J Clin Oncol. 2006;24:2137–50. - PubMed

[3] Easton DF, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007;447:1087–93. - PMC - PubMed

[4] Easton DF, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007;447:1087–93. - PMC - PubMed

[5] Hunter DJ, et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet. 2007;39:870–4. - PMC - PubMed

[6] Hunter DJ, et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet. 2007;39:870–4. - PMC - PubMed

[7] Stacey SN, et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2008;40:703–6. - PubMed

[8] Stacey SN, et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2008;40:703–6. - PubMed

[9] Stacey SN, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2007;39:865–9. - PubMed

[10] Stacey SN, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2007;39:865–9. - PubMed

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

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

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