Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
Couch, Ferguson J. (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Wang, Xianshu (Mayo Clinic (Rochester, Estats Units d'Amèrica))
McGuffog, Lesley (University of Cambridge (Regne Unit))
Lee, Andrew J. (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Olswold, Curtis L. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Kuchenbaecker, Karoline (University of Cambridge (Regne Unit))
Soucy, Penny (Laval University (Canadà))
Fredericksen, Z. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Barrowdale, Daniel (University of Cambridge (Regne Unit))
Dennis, Joe G. (University of Cambridge (Regne Unit))
Gaudet, Mia M. (American Cancer Society)
Dicks, Ed M. (University of Cambridge)
Kosel, Matthew L. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Healey, Sue C. (Queensland Institute of Medical Research)
Sinilnikova, Olga M. (Université Lyon 1)
Lee, Adam M. (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Bacot, François (Centre d'Innovation Génome Québec et Université McGill)
Vincent, Daniel (Centre d'Innovation Génome Québec et Université McGill)
Hogervorst, Frans B. L. (The Netherlands Cancer Institute (Amsterdam, Països Baixos))
Peock, Susan (Centre for University of Cambridge (Regne Unit))
Stoppa-Lyonnet, Dominique (Institut Curie (França))
Jakubowska, Anna (Pomeranian Medical University (Polònia))
Radice, Paolo (IFOM. Fondazione Istituto FIRC di Oncologia Molecolare (Itàlia))
Schmutzler, Rita Katharina (University Hospital of Cologne (Alemanya))
Domchek, Susan M. (University of Pennsylvania (Estats Units d'Amèrica))
Piedmonte, Marion R. (Roswell Park Cancer Institute (Estats Units d'Amèrica))
Singer, Christian Fridolin (Medical University of Vienna (Àustria))
Friedman, Eitan A. (Sheba Medical Center (Israel))
Thomassen, Mads (Odense University Hospital (Dinamarca))
Hansen, Thomas Van Overeem (Copenhagen University Hospital (Dinamarca))
Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica))
Szabo, Csilla I. (University of Delaware (Estats Units d'Amèrica))
Blanco Guillermo, Ignacio (Institut d'Investigació Biomèdica de Bellvitge)
Greene, Mark H. (National Institutes of Health (Estats Units d'Amèrica))
Karlan, Beth Y. (Cedars-Sinai Medical Center (Estats Units d'Amèrica))
Garber, Judy Ellen (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica))
Phelan, Catherine M. (Moffitt Cancer Center (Estats Units d'Amèrica))
Weitzel, Jeffrey (City of Hope Clinical Cancer Genetics Community Research Network (Duarte, Estats Units d'Amèrica))
Montagna, Marco (Istituto Oncologico Veneto)
Olah, Edith (National Institute of Oncology)
Andrulis, Irene L. L. (Mount Sinai Hospital (Canadà))
Godwin, Andrew K. (University of Kansas Medical Center (Estats Units d'Amèrica))
Yannoukakos, Drakoulis (National Centre for Scientific Research Demokritos (Grècia))
Goldgar, David E. (University of Utah School of Medicine (Estats Units d'Amèrica))
Caldes, Trinidad (Hospital Clínico San Carlos (Madrid))
Nevanlinna, Heli A. (Helsinki University Central Hospital (Finlàndia))
Osorio, Ana (Centro Nacional de Investigaciones Oncológicas)
Terry, Mary Beth Eth (Columbia University (Estats Units d'Amèrica))
Daly, Mary Beryl (Fox Chase Cancer Center (Estats Units d'Amèrica))
van Rensburg, Elizabeth J. (University of Pretoria (Sud-àfrica))
Hamann, Ute (Deutsches Krebsforschungszentrum)
Ramus, Susan J. (University of Southern California)
Ewart Toland, Amanda (The Ohio State University (Estats Units d'Amèrica))
Caligo, Maria (University Hospital of Pisa (Pisa, Itàlia))
Olopade, Olufunmilayo Ibironke (University of Chicago Medical Center (Estats Units d'Amèrica))
Tung, Nadine M. (Beth Israel Deaconess Medical Center (Estats Units d'Amèrica))
Claes, Kathleen (Ghent University Hospital (Gant, Bèlgica))
Beattie, Mary Spanos (University of California San Francisco (Estats Units d'Amèrica))
Southey, Melissa C. (University of Melbourne (Austràlia))
Imyanitov, Evgeny N. (Petrov Institute of Oncology (Rússia))
Tischkowitz, Marc D. (McGill University (Regne Unit))
Janavicius, Ramūnas (Vilnius University Hospital Santariskiu Clinics (Vilnius, Lituània))
John, Esther M. (Cancer Prevention Institute of California)
Kwong, Ava (Hong Kong Sanatorium and Hospital)
Diez, Orland (Vall d'Hebron Institut d'Oncologia)
Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron)
Barkardottir, Rósa Björk (University of Iceland)
Arun, Banu K. (University of Texas MD Anderson Cancer Center)
Rennert, Gad (Carmel Medical Center (Israel))
Teo, Soo (University of Malaya)
Ganz, Patricia (University of California Los Angeles Schools of Medicine and Public Health)
Campbell, Ian (Peter MacCallum Cancer Centre (Austràlia))
van der Hout, Annemarie H. (Groningen University (Països Baixos))
van Deurzen, Carolien H. M. (Erasmus University Medical Center (Països Baixos))
Seynaeve, Caroline M. (Erasmus University Medical Center (Països Baixos))
Gómez Garcia, Encarna B. (School for Oncology and Developmental Biology (Maastricht, Països Baixos))
van Leeuwen, Flora Elizabeth (Netherlands Cancer Institute (Països Baixos))
Meijers-Heijboer, Hanne E. J. (VU University Medical Centre (Països Baixos))
Gille, Johan (VU University Medical Centre (Països Baixos))
Ausems, Margreet G. E. M. (University Medical Center Utrecht (Països Baixos))
Blok, Marinus J. (Maastricht University Medical Center (Països Baixos))
Ligtenberg, Marjolijn J. L. (Radboud University Nijmegen Medical Centre (Països Baixos))
Rookus, Matti A. (Netherlands Cancer Institute (Països Baixos))
Devilee, Peter P. (Leiden University Medical Center)
Verhoef, Senno (Netherlands Cancer Institute (Països Baixos))
van Os, Theo A. M. (Academic Medical Center (Amsterdam, Països Baixos))
Wijnen, Juul Th (Leiden University Medical Center)
Frost, Debra (University of Cambridge (Regne Unit))
Ellis, Steve D. (University of Cambridge (Regne Unit))
Fineberg, Elena (University of Cambridge (Regne Unit))
Platte, Radka (University of Cambridge (Regne Unit))
Evans, Gareth (Manchester Regional Genetics Service (Regne Unit))
Izatt, Louise (St. Thomas' NHS Foundation Trust (Regne Unit))
Eeles, Rosalind (The Royal Marsden NHS Foundation Trust)
Adlard, Julian (Yorkshire Regional Genetics Service (Regne Unit))
Eccles, Diana M. (University of Southampton Faculty of Medicine (Regne Unit))
Cook, Jacqueline A. (North Trent Clinical Genetics Service (Regne Unit))
Brewer, Carole M. (Royal Devon and Exeter Hospital (Regne Unit))
Douglas, Fiona S. (Northern Clinical Genetics Service (Regne Unit))
Hodgson, Shirley Victoria (South West Thames Regional Genetics Service (Regne Unit))
Morrison, Pattrick (Queens University Belfast (Regne Unit))
Side, Lucy E. (University College London (Regne Unit))
Donaldson, Alan (St. Michael's Hospital (Bristol, Regne Unit))
Houghton, Catherine (Cheshire and Merseyside Clinical Genetics Service (Regne Unit))
Rogers, Mark T. (University Hospital of Wales (Regne Unit))
Dorkins, Huw R. (Kennedy-Galton Centre (Regne Unit))
Eason, Jacqueline (Nottingham Centre for Medical Genetics (Regne Unit))
Gregory, Helen (University of Aberdeen (Regne Unit))
McCann, Emma (Glan Clwyd Hospital (Regne Unit))
Murray, Alex J. (Singleton Hospital (Regne Unit))
Calender, Alain (Hospices Civils de Lyon-Centre Léon Bérard (França))
Hardouin, Agnès (Centre François Baclesse (Caen, França))
Berthet, Pascaline (Centre François Baclesse (Caen, França))
Delnatte, Capucine (CHU de Nantes)
Nogues, Catherine (Hôpital René Huguenin. Institut Curie (França))
Lasset, Christine (Centre Léon Bérard (França))
Houdayer, Claude (Institut Curie (França))
Leroux, Dominique (CHU Grenoble (França))
Rouleau, Étienne L. (Institut Curie (França))
Prieur, Fabienne (CHU St-Etienne (França))
Damiola, F. (Université Lyon)
Sobol, H. (Institut Paoli Calmettes)
Coupier, I. (CHRU Arnaud de Villeneuve (Montpellier, França))
Venat-Bouvet, L. (Centre Hospitalier Universitaire Dupuytren)
Castera, L. (Institut Curie)
Gauthier-Villars, M. (Institut Curie)
Léoné, M. (Hospices Civils de Lyon-Centre Léon Bérard)
Pujol, P. (CHRU Arnaud de Villeneuve (Montpellier, França))
Mazoyer, S. (Hospices Civils de Lyon)
Bignon, Y.J. (Centre Jean Perrin)
Złowocka-Perłowska, E. (Pomeranian Medical University)
Gronwald, J. (Pomeranian Medical University)
Lubinski, J. (Pomeranian Medical University)
Durda, K. (Pomeranian Medical University)
Jaworska, K. (Warsaw Medical University)
Huzarski, T. (Pomeranian Medical University)
Spurdle, A.B. (Queensland Institute of Medical Research)
Peissel, B. (Fondazione IRCCS Istituto Nazionale dei Tumori)
Bonanni, B. (Istituto Europeo di Oncologia)
Melloni, G. (Fondazione IRCCS Istituto Nazionale dei Tumori)
Ottini, L. (Università degli Studi di Roma "La Sapienza")
Papi, L. (Università degli Studi di Firenze)
Varesco, L. (Istituto Nazionale per la Ricerca sul Cancro)
Tibiletti, M.G. (Ospedale di Circolo-Università dell'Insubria)
Peterlongo, P. (Fondazione Istituto FIRC di Oncologia Molecolare)
Volorio, S. (Fondazione Istituto FIRC di Oncologia Molecolare)
Manoukian, S. (Fondazione IRCCS Istituto Nazionale dei Tumori)
Pensotti, V. (Fondazione Istituto FIRC di Oncologia Molecolare)
Arnold, N. (University Hospital of Schleswig-Holstein/University Kiel)
Engel, C. (University of Leipzig)
Deissler, H. (University Hospital of Ulm (Alemanya))
Gadzicki, D. (Hannover Medical School)
Gehrig, A. (Julius-Maximilians-Universität Würzburg)
Kast, K. (University Hospital Carl Gustav Carus)
Rhiem, K. (Uniklinik Köln (Colònia, Alemanya))
Meindl, A. (Technical University of Munich)
Niederacher, D. (Heinrich-Heine-University)
Ditsch, N. (University of Munich)
Plendl, H. (University of Kiel)
Preisler-Adams, S. (Institute of Human Genetics)
Engert, S. (Technical University of Munich)
Sutter, C. (University of Heidelberg)
Varon-Mateeva, Raymonda (Institute of Medical and Human Genetics)
Wappenschmidt, B. (Uniklinik Köln (Colònia, Alemanya))
Weber, B.H.F. (University of Regensburg)
Arver, B. (Karolinska University Hospital)
Stenmark-Askmalm, M. (Linköping University)
Loman, N. (Lund University and University Hospital)
Rosenquist, R. (Uppsala University)
Einbeigi, Z. (Sahlgrenska University Hospital (Suècia))
Nathanson, K.L. (University of Pennsylvania)
Rebbeck, T.R. (University of Pennsylvania)
Blank, S.V. (New York University School of Medicine)
Cohn, D.E. (Ohio State University)
Rodriguez, G.C. (University of Chicago)
Small, L. (Maine Medical Center. Maine Women's Surgery and Cancer Centre)
Friedländer, Marc R. (Australia New Zealand GOG)
Bae-Jump, V.L. (The University of North Carolina at Chapel Hill)
Fink-Retter, A. (Medical University of Vienna)
Rappaport, C. (Medical University of Vienna)
Gschwantler-Kaulich, D. (Medical University of Vienna)
Pfeiler, G. (Medical University of Vienna)
Tea, M.K. (Medical University of Vienna)
Lindor, N.M. (Mayo Clinic Arizona (Phoenix, Estats Units d'Amèrica))
Kaufman, B. (Sheba Medical Center)
Shimon Paluch, S. (Sheba Medical Center)
Laitman, Y. (Sheba Medical Center)
Skytte, A.B. (Vejle Hospital (Vejle, Dinamarca))
Gerdes, A.M. (University of Copenhagen)
Pedersen, I.S. (Aalborg University Hospital (Dinamarca))
Moeller, S.T. (Odense University Hospital (Dinamarca))
Kruse, T.A. (Odense University Hospital (Dinamarca))
Jensen, U.B. (Aarhus University Hospital (Aarhus, Dinamarca))
Vijai, J. (Memorial Sloan Kettering Cancer Center)
Sarrel, K. (Memorial Sloan Kettering Cancer Center)
Robson, M. (Memorial Sloan Kettering Cancer Center)
Kauff, N. (Memorial Sloan Kettering Cancer Center)
Mulligan, A.M. (St Michael's Hospital)
Glendon, G. (Mount Sinai Hospital)
Ozcelik, H. (University of Toronto)
Ejlertsen, B. (Copenhagen University Hospital)
Nielsen, F.C. (Copenhagen University Hospital)
Jønson, L. (Copenhagen University Hospital)
Andersen, M.K. (Copenhagen University Hospital)
Ding, Y.C. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica))
Steele, L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica))
Foretova, L. (Masaryk Memorial Cancer Institute)
Teule, Alex (Institut d'Investigació Biomèdica de Bellvitge)
Lazaro Garcia, Conxi (Institut d'Investigació Biomèdica de Bellvitge)
Brunet, Joan (Institut de Recerca Biomèdica de Girona)
Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge)
Mai, P.L. (National Institutes of Health (Maryland, Estats Units))
Loud, J.T. (National Institutes of Health (Maryland, Estats Units))
Walsh, C. (Cedars-Sinai Medical Center)
Lester, J. (Cedars-Sinai Medical Center)
Orsulic, S. (Cedars-Sinai Medical Center)
Narod, Steven A. (University of Toronto)
Herzog, J. (Clinical Cancer Genètics (Califòrnia, Estats Units))
Sand, S.R. (Clinical Cancer Genètics (Califòrnia, Estats Units))
Tognazzo, S. (Istituto Oncologico Veneto)
Agata, Simona (Istituto Oncologico Veneto)
Vaszkó, Tibor (National Institute of Oncology)
Weaver, J. (Fox Chase Cancer Center)
Stavropoulou, A.V. (National Centre for Scientific Research Demokritos)
Buys, S.S. (University of Utah School of Medicine)
Romero, A. (Hospital Clínico San Carlos (Madrid))
de la Hoya, M. (Hospital Clínico San Carlos (Madrid))
Aittomäki, K. (Helsinki University Central Hospital)
Muranen, T.A. (University of Helsinki)
Duran, M. (Universidad de Valladolid)
Chung, W.K. (Columbia University)
Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau)
Dorfling, C.M. (University of Pretoria)
Miron, A. (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica))
Benitez, J. (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Senter, L. (The Ohio State University)
Huo, D. (University of Chicago Medical Center)
Chan, S.B. (University of California San Francisco)
Sokolenko, A.P. (N.N. Petrov Institute of Oncology)
Chiquette, J. (Centre de Recherche FRSQ du Centre Hospitalier Affilié Universitaire de Québec)
Tihomirova, L. (Latvian Biomedical Research and Study Centre)
Friebel, T.M. (University of Pennsylvania)
Agnarsson, Bjarni A. (University of Iceland School of Medicine)
Lu, K.H. (University of Texas MD Anderson Cancer Center)
Lejbkowicz, F. (Carmel Medical Center)
James, Paul (Peter MacCallum Cancer Centre)
Hall, P. (Karolinska Institutet (Estocolm, Suècia))
Dunning, A.M. (University of Cambridge)
Tessier, Daniel C. (Université McGill)
Cunningham, Julie M. (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Slager, S.L. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Wang, C. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Hart, S. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Stevens, Kristen (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Simard, J. (Laval University)
Pastinen, T. (McGill University)
Pankratz, V.S. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Offit, K. (Memorial Sloan Kettering Cancer Center)
Easton, D.F. (University of Cambridge)
Chenevix-Trench, G. (Queensland Institute of Medical Research)
Antoniou, A.C. (University of Cambridge)
Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia

Data:	2013
Resum:	BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2. 7×10, HR = 1. 14, 95% CI: 1. 09-1. 20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21. 31 (rs17631303, P = 1. 4×10, HR = 1. 27, 95% CI: 1. 17-1. 38) and 4q32. 3 (rs4691139, P = 3. 4×10, HR = 1. 20, 95% CI: 1. 17-1. 38). The 4q32. 3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21. 31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers. © 2013 Couch et al.
Ajuts:	Ministerio de Sanidad y Consumo 06/0020/1060 Ministerio de Sanidad y Consumo 06/0020/0021 Ministerio de Sanidad y Consumo RD06/0020/1051 Ministerio de Ciencia e Innovación 09/00859 Agència de Gestió d'Ajuts Universitaris i de Recerca 2009/SGR-290 Agència de Gestió d'Ajuts Universitaris i de Recerca 2009/SGR-283
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:	BRCA1 Protein ; BRCA2 Protein ; Breast Neoplasms ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Heterozygote ; Humans ; Middle Aged ; Mutation ; Ovarian Neoplasms ; Polymorphism, Single Nucleotide ; Prognosis ; Risk Factors
Publicat a:	PLOS genetics, Vol. 9 Núm. 3 (2013) , p. e1003212, ISSN 1553-7404

DOI: 10.1371/journal.pgen.1003212
PMID: 23544013

21 p, 2.9 MB

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