Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
Zeng, Chenjie (Vanderbilt University (Estats Units d'Amèrica))
Guo, Xingyi (Vanderbilt University (Estats Units d'Amèrica))
Long, Jirong (Vanderbilt University (Estats Units d'Amèrica))
Kuchenbaecker, Karoline B. (University of Cambridge (Regne Unit))
Droit, Arnaud (Laval University (Quèbec, Canada))
Michailidou, Kyriaki (University of Cambridge (Regne Unit))
Ghoussaini, Maya (University of Cambridge (Regne Unit))
Kar, Siddhartha (University of Cambridge (Regne Unit))
Freeman, Adam (Department of Surgery, St Vincent's Hospital (Melbourne, Austràlia))
Hopper, John L. (University of Melbourne (Melbourne, Austràlia))
Milne, Roger L. (Cancer Epidemiology Centre (Melbourne, Austràlia))
Bolla, Manjeet K. (University of Cambridge (Regne Unit))
Wang, Qin (University of Cambridge (Regne Unit))
Dennis, Joe (University of Cambridge (Regne Unit))
Agata, Simona (Istituto Oncologico Veneto (Pàdua, Itàlia))
Ahmed, Shahana (University of Cambridge (Regne Unit))
Aittomäki, Kristiina (University of Helsinki)
Andrulis, Irene L. (Department of Molecular Genetics, University of Toronto)
Anton-Culver, Hoda (Department of Epidemiology, University of California Irvine)
Antonenkova, Natalia N. (N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus)
Arason, Adalgeir (University of Iceland (Reykjavik, Islàndia))
Arndt, Volker (German Cancer Research Center (Heidelberg, Alemanya))
Arun, Banu K. (University of Texas)
Arver, Brita (Karolinska University Hospital and Karolinska Institutet (Suècia))
Bacot, Francois (McGill University and Génome Québec Innovation Centre (Montréal, Canadà))
Barrowdale, Daniel (University of Cambridge (Regne Unit))
Baynes, Caroline (Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK)
Beeghly-Fadiel, Alicia (Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN 37203-1738 USA)
Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Bermisheva, Marina (Institute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russia)
Blomqvist, Carl (Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland)
Blot, William (International Epidemiology Institute, Rockville, MD USA)
Bogdanova, Natalia V. (Hannover Medical School)
Bojesen, Stig E. (Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark)
Bonanni, Bernardo (Istituto Europeo di Oncologia (Milà, Itàlia))
Borresen-Dale, Anne-Lise (K.G. Jebsen Center for Breast Cancer Research, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway)
Brand, Judith S. (Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden)
Brauch, Hiltrud (German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany)
Brennan, Paul (International Agency for Research on Cancer, Lyon, France)
Brenner, Hermann (German Cancer Research Center (DKFZ))
Broeks, Annegien (The Netherlands Cancer Institute (Amsterdam, Països Baixos))
Brüning, Thomas (Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum, Bochum, Germany)
Burwinkel, Barbara (German Cancer Research Center (DKFZ))
Buys, Saundra (Department of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT USA)
Cai, Qiuyin (Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN 37203-1738 USA)
Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Campbell, Ian (Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, Australia)
Carpenter, Jane (Australian Breast Cancer Tissue Bank, Westmead Millennium Institute, University of Sydney, Sydney, Australia)
Chang-Claude, Jenny (University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany)
Choi, Ji-Yeob (Cancer Research Institute, Seoul National University, Seoul, South Korea)
Claes, Kathleen (Center for Medical Genetics, Ghent University, Ghent, Belgium)
Clarke, Christine L (Westmead Millenium Institute for Medical Research, University of Sydney, Sydney, Australia)
Cox, Angela (Sheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK)
Cross, Simon S. (Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK)
Czene, Kamila (Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden)
Daly, Mary B. (Fox Chase Cancer Center (Philadelphia, Estats Units d'Amèrica))
De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
De Leeneer, Kim (Center for Medical Genetics, Ghent University, Ghent, Belgium)
Devilee, Peter (Leiden University Medical Center)
Diez, Orland (Vall d'Hebron Institut d'Oncologia)
Domchek, Susan M. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA)
Doody, Michele (Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD USA)
Dorfling, Cecilia M. (Department of Genetics, University of Pretoria, Pretoria, South Africa)
Dörk, Thilo (Hannover Medical School. Clinics of Obstetrics and Gynaecology)
dos-Santos-Silva, Isabel (London School of Hygiene & Tropical Medicine. Department of Non-Communicable Disease Epidemiology)
Dumont, Martine (Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Canada)
Dwek, Miriam (Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK)
Dworniczak, Bernd (Institute of Human Genetics, Muenster, Germany)
Egan, Kathleen (Division of Population Sciences, Moffitt Cancer Center & Research Institute, Tampa, FL USA)
Eilber, Ursula (German Cancer Research Center (DKFZ))
Einbeigi, Zakaria (Department of Oncology, Sahlgrenska University Hospital, Gothenburg, Sweden)
Ejlertsen, Bent (Copenhagen University Hospital Rigshospitalet)
Ellis, Steve (University of Cambridge. Centre for Cancer Genetic Epidemiology)
Frost, Debra (University of Cambridge. Centre for Cancer Genetic Epidemiology)
Lalloo, Fiona (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK)
Fasching, Peter A. (David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, CA USA)
Figueroa, Jonine (Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD USA)
Flyger, Henrik (Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark)
Friedlander, Michael (ANZ GOTG Coordinating Centre, Australia New Zealand GOG, Camperdown, NSW Australia)
Friedman, Eitan (Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, Israel)
Gambino, Gaetana (Section of Genetic Oncology, Deparment of Laboratory Medicine, University and University Hospital of Pisa, Pisa, Italy)
Gao, Yu-Tang (Department of Epidemiology, Shanghai Cancer Institute, Shanghai, China)
Garber, Judy (Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA USA)
García-Closas, Montserrat (Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK)
Gehrig, Andrea (Institute of Human Genetics, University Würzburg, Wurzburg, Germany)
Damiola, Francesca (Centre National de la Recherche Scientifique (França))
Lesueur, Fabienne (Genetic Epidemiology of Cancer team, Inserm, U900, Institut Curie, Mines ParisTech, 75248 Paris, France)
Mazoyer, Sylvie (Centre National de la Recherche Scientifique (França))
Stoppa-Lyonnet, Dominique (Université Paris Descartes)
Giles, Graham G. (Cancer Epidemiology Centre (Melbourne, Austràlia))
Godwin, Andrew K. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS USA)
Goldgar, David E. (Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT USA)
González-Neira, Anna (Centro Nacional de Investigaciones Oncológicas)
Greene, Mark H. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD USA)
Guénel, Pascal (University Paris-Sud, Villejuif, France)
Haeberle, Lothar (Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany)
Haiman, Christopher A. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA USA)
Hallberg, Emily (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Hamann, Ute (German Cancer Research Center (DKFZ))
Hansen, Thomas V. O. (Copenhagen University Hospital Rigshospitalet)
Hart, Steven (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Hartikainen, Jaana M. (Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland)
Hartman, Mikael (Department of Surgery, National University Health System, Singapore, Singapore)
Hassan, Norhashimah (Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia)
Healey, Sue (Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD Australia)
Hogervorst, Frans B. L. (The Netherlands Cancer Institute (Amsterdam, Països Baixos))
Verhoef, Senno (The Netherlands Cancer Institute (Amsterdam, Països Baixos))
Hendricks, Carolyn B. (City of Hope Clinical Cancer Genetics Community Research Network (Duarte, Estats Units d'Amèrica))
Hillemanns, Peter (Hannover Medical School. Clinics of Obstetrics and Gynaecology)
Hollestelle, Antoinette (Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands)
Hulick, Peter J. (Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL USA)
Hunter, David J. (Harvard School of Public Health)
Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology, St. Petersburg, Russia)
Isaacs, Claudine (Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC USA)
Ito, Hidemi (Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Aichi, Japan)
Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland)
Janavicius, Ramunas (State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania)
Jaworska-Bieniek, Katarzyna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland)
Jensen, Uffe Birk (Aarhus University Hospital (Aarhus, Dinamarca))
John, Esther M. (Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA USA)
Joly Beauparlant, Charles (Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, QC Canada)
Jones, Michael (Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK)
Kabisch, Maria (German Cancer Research Center (DKFZ))
Kang, Daehee (Cancer Research Institute, Seoul National University, Seoul, South Korea)
Karlan, Beth Y. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica))
Kauppila, Saila (Department of Pathology, Oulu University Hospital, University of Oulu, Oulu, Finland)
Kerin, Michael J. (School of Medicine, National University of Ireland, Galway, Ireland)
Khan, Sofia (Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland)
Khusnutdinova, Elza (Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russia)
Knight, Julia A. (Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada)
Konstantopoulou, Irene (Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research "Demokritos", Athens, Greece)
Kraft, Peter (Harvard School of Public Health)
Kwong, Ava (Department of Surgery, The University of Hong Kong, Hong Kong, China)
Laitman, Yael (Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, Israel)
Lambrechts, Diether (Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium)
Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge)
Le Marchand, Loic (University of Hawaii Cancer Center, Honolulu, HI USA)
Lee, Chuen Neng (Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore)
Lee, Min Hyuk (Department of Surgery, Soonchunhyang University and Hospital, Seoul, South Korea)
Lester, Jenny (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica))
Li, Jingmei (Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden)
Liljegren, Annelie (Karolinska University Hospital and Karolinska Institutet (Suècia))
Lindblom, Annika (Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden)
Lophatananon, Artitaya (Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, UK)
Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland)
Mai, Phuong L. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD USA)
Mannermaa, Arto (Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland)
Manoukian, Siranoush (Fondazione IRCCS Istituto Nazionale dei Tumori)
Margolin, Sara (Department of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden)
Marme, Frederik (National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany)
Matsuo, Keitaro (Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences, Fukuoka, Japan)
McGuffog, Lesley (University of Cambridge. Centre for Cancer Genetic Epidemiology)
Meindl, Alfons (Technische Universität München. Division of Gynaecology and Obstetrics)
Menegaux, Florence (University Paris-Sud, Villejuif, France)
Montagna, Marco (Istituto Oncologico Veneto (Pàdua, Itàlia))
Muir, Kenneth (Institute of Population Health, University of Manchester, Manchester, UK)
Mulligan, Anna Marie (Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada)
Nathanson, Katherine L. (University of Pennsylvania, Department of Medicine)
Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica))
Nevanlinna, Heli (Helsinki University Hospital (Finlàndia))
Newcomb, Polly A. (Fred Hutchinson Cancer Research Center)
Nord, Silje (Department of Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway)
Nussbaum, Robert L. (Department of Medicine and Genetics, University of California, San Francisco, San Francisco, CA USA)
Offit, Kenneth (Memorial Sloan Kettering Cancer Center)
Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary)
Olopade, Olufunmilayo I. (Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, IL USA)
Olswold, Curtis (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Osorio, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Papi, Laura (Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy)
Park-Simon, Tjoung-Won (Hannover Medical School. Clinics of Obstetrics and Gynaecology)
Paulsson-Karlsson, Ylva (Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden)
Peeters, Stephanie (University Hospital Gashuisberg, Leuven, Belgium)
Peissel, Bernard (Fondazione IRCCS Istituto Nazionale dei Tumori)
Peterlongo, Paolo (IFOM, Fondazione Istituto FIRC (Italian Foundation of Cancer Research) di Oncologia Molecolare, Milan, Italy)
Peto, Julian (London School of Hygiene and Tropical Medicine. Department of Non-communicable Disease Epidemiology)
Pfeiler, Georg (Department of Obstetrics and Gynecology, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria)
Phelan, Catherine M. (Moffitt Cancer Center (Tampa, Estats Units d'Amèrica))
Presneau, Nadege (Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK)
Radice, Paolo (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)
Rahman, Nazneen (Section of Cancer Genetics, The Institute of Cancer Research, London, UK)
Ramus, Susan J. (University of Southern California Norris Comprehensive Cancer Center)
Rashid, Muhammad Usman (Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan)
Rennert, Gad (Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, Haifa, Israel)
Rhiem, Kerstin (University Hospital of Cologne (Colònia, Alemanya). Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO))
Rudolph, Anja (German Cancer Research Center (DKFZ))
Salani, Ritu (Obstetrics and Gynecology, Ohio State University College of Medicine, Columbus, OH USA)
Sangrajrang, Suleeporn (National Cancer Institute, Bangkok, Thailand)
Sawyer, Elinor J. (Research Oncology, Guy's Hospital, King's College London, London, UK)
Schmidt, Marjanka K (The Netherlands Cancer Institute (Amsterdam, Països Baixos))
Schmutzler, Rita K. (Uniklinik Köln (Colònia, Alemanya))
Schoemaker, Minouk J. (Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK)
Schürmann, Peter (Hannover Medical School. Clinics of Obstetrics and Gynaecology)
Seynaeve, Caroline (Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands)
Shen, Chen-Yang (Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan)
Shrubsole, Martha J. (Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN 37203-1738 USA)
Shu, Xiao-Ou (Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN 37203-1738 USA)
Sigurdson, Alice (Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD USA)
Singer, Christian F. (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria)
Slager, Susan (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Soucy, Penny (Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, QC Canada)
Southey, Melissa (Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, VIC Australia)
Steinemann, Doris (Hannover Medical School)
Swerdlow, Anthony (Division of Breast Cancer Research, The Institute of Cancer Research, London, UK)
Szabo, Csilla I. (National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA)
Tchatchou, Sandrine (Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON Canada)
Teixeira, Manuel R. (Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal)
Teo, Soo (Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia)
Terry, Mary Beth (Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY USA)
Tessier, Daniel C. (McGill University and Génome Québec Innovation Centre, Montréal, Canada)
Teulé, Alex (Institut d'Investigació Biomèdica de Bellvitge)
Thomassen, Mads (Odense University Hospital (Dinamarca))
Tihomirova, Laima (Latvian Biomedical Research and Study Centre, Riga, Latvia)
Tischkowitz, Marc (Currently at Medical School Cambridge University, Cambridge, UK)
Toland, Amanda E. (Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH USA)
Tung, Nadine (Beth Israel Deaconess Cancer Center (Boston, Estats Units d'Amèrica))
Turnbull, Clare (Section of Cancer Genetics, The Institute of Cancer Research, London, UK)
van den Ouweland, Ans M. W. (Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands)
van Rensburg, Elizabeth J. (Department of Genetics, University of Pretoria, Pretoria, South Africa)
ven den Berg, David (Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA USA)
Vijai, Joseph (Memorial Sloan Kettering Cancer Center)
Wang-Gohrke, Shan (Department of Obstetrics and Gynecology, University of Ulm, Ulm, Germany)
Weitzel, Jeffrey N. (Clinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA USA)
Whittemore, Alice S. (Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA USA)
Winqvist, Robert (Northern Finland Laboratory Centre NordLab (Oulu, Finlàndia))
Wong, Tien Y. (Singapore Eye Research Institute, National University of Singapore, Singapore, Singapore)
Wu, Anna H. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA USA)
Yannoukakos, Drakoulis (George Papanicolaou General Hospital (Tessalònica, Grècia))
Yu, Jyh-Cherng (Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan)
Pharoah, Paul D. P. (Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK)
Hall, Per (Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden)
Chenevix-Trench, Georgia (Peter MacCallum Cancer Center, The University of Melbourne, Melbourne, Australia)
Dunning, Alison M. (Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK)
Simard, Jacques (Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Canada)
Couch, Fergus J. (Mayo Clinic (Rochester, Estats Units d'Amèrica). Department of Laboratory Medicine and Pathology)
Antoniou, Antonis C. (University of Cambridge. Centre for Cancer Genetic Epidemiology)
Easton, Douglas F. (Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK)
Zheng, Wei (Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 2525 West End Avenue, 8th Floor, Nashville, TN 37203-1738 USA)

Data:	2016
Resum:	Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1. 09, 95 % confidence interval (CI) = 1. 06-1. 12; P = 3 × 10 -9), rs805510 (OR = 1. 08, 95 % CI = 1. 04-1. 12, P = 2 × 10 -5), and rs1871152 (OR = 1. 04, 95 % CI = 1. 02-1. 06; P = 2 × 10 -4) identified in the general populations, and rs113824616 (P = 7 × 10 -5) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0. 05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0. 05. This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk. The online version of this article (doi:10. 1186/s13058-016-0718-0) contains supplementary material, which is available to authorized users.
Ajuts:	European Commission 223175 Ministerio de Ciencia, Innovación y Universidades PI11/00923 Ministerio de Ciencia, Innovación y Universidades PI12/00070 Ministerio de Sanidad y Consumo RD06/0020/1060 Ministerio de Sanidad y Consumo RD06/0020/1051 Instituto de Salud Carlos III RD12/0036/008 Instituto de Salud Carlos III PI10/01422 Instituto de Salud Carlos III PI10/00748 Instituto de Salud Carlos III PI13/00285 Instituto de Salud Carlos III PIE13/00022 Instituto de Salud Carlos III 2009GR290 Instituto de Salud Carlos III 2014/SGR-364
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Fine-scale mapping ; Genetic risk factor ; PTHLH ; CCDC91 ; Breast cancer ; BRAC1 mutation carriers
Publicat a:	Breast cancer research, Vol. 18 (june 2016) , ISSN 1465-542X

DOI: 10.1186/s13058-016-0718-0
PMID: 27459855

21 p, 2.6 MB

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