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An original phylogenetic approach identified mitochondrial haplogrou,p T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
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McGuffog, Lesley (University of Cambridge)
Healey, Sue (QIMR Berghofer (Australia))
Barrowdale, Daniel (University of Cambridge)
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Kuchenbaecker, Karoline B. (University of Cambridge)
Soucy, Penny (Laval University (Canadà))
Terry, Mary Beth (Columbia University)
Chung, Wendy (Columbia University College of Physicians and Surgeons)
Goldgar, David E. (University of Utah School of Medicine)
Buys, Saundra (University of Utah School of Medicine)
Janavicius, Ramunas (State Research Institute (Lituania))
Tihomirova, Laima (Latvian Biomedical Research and Study Centre)
Tung, Nadine (Beth Israel Deaconess Medical Center (Estats Units d'Amèrica))
Dorfling, Cecilia M. (University of Pretoria)
van Rensburg, Elizabeth J. (University of Pretoria (Estats Units d'Amèrica))
Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica))
Ding, Yuan Chun (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica))
Gerdes, Anne-Marie (Copenhagen University Hospital)
Ejlertsen, Bent (Copenhagen University Hospital)
Nielsen, Finn C. (Copenhagen University Hospital)
Hansen, Thomas V. O. (Copenhagen University Hospital)
Osorio, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras)
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Peterlongo, Paolo (Istituto FIRC di Oncologia Molecolare)
Radice, Paolo (Istituto di Ricovero e Cura a Carattere Scientifico)
Pensotti, Valeria (Cogentech Cancer Genetic Test Laboratory (Itàlia))
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Papi, Laura (University of Florence, Florence)
Ottini, Laura (Sapienza University)
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Hodgson, Shirley (St George's University of London)
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Wappenschmidt, Barbara (Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Strasse 21, 50931 Cologne, Germany)
Sutter, Christian (Heidelberg University Hospital (Alemanya))
Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology, Medical Faculty, University of Leipzig, Leipzig, Germany)
Niederacher, Dieter (University Hospital of Düsseldorf (Alemanya))
Steinemann, Doris (Institute of Cell and Molecular Pathology, Centre for Pathology and Forensic and Genetic Medicine, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany)
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Kast, Karin (Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus of Dresden, Technical University Dresden, Dresden, Germany)
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Varon-Mateeva, Raymonda (Institute of Medical Genetics and Human Genetics, Campus Virchow-Klinikum, Charité Berlin - Universtitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany)
Schmutzler, Rita K. (German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC), Cologne, Germany)
Preisler-Adams, Sabine (University Hospital of Münster (Alemanya))
Markov, Nadja Bogdanova (University Hospital of Münster (Alemanya))
Wang-Gohrke, Shan (University Hospital of Ulm (Alemanya))
De Pauw, Antoine (Institut Curie. Department of Tumour Biology)
Lefol, Cédrick (Department of Tumour Biology, Institut Curie, 26 rue d'Ulm 75248, Paris, cedex 05 France)
Lasset, Christine (Unité de Prévention et d'Épidémiologie Génétique, Centre Léon Bérard, 28 rue Laenned, 69008 Lyon, France)
Leroux, Dominique (Institut Albert Bonniot - Inserm U823, Université Joseph Fourier, Rond-point de la Chantourne, 38706 La Tronche, France)
Rouleau, Etienne (Laboratoire d'Oncogénétique, Hôpital René Huguenin, Institut Curie, 35 rue Dailly, 92210 Saint-Cloud, France)
Damiola, Francesca (Centre National de la Recherche Scientifique (França))
Dreyfus, Hélène (Institut Albert Bonniot - Inserm U823, Université Joseph Fourier, Rond-point de la Chantourne, 38706 La Tronche, France)
Barjhoux, Laure (Centre National de la Recherche Scientifique (França))
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Uhrhammer, Nancy (Département d'Oncogénétique, Centre Jean Perrin, Université de Clermont-Ferrand, 58 rue Montalembert, BP 392, 63011 Clermont-Ferrand, France)
Bonadona, Valérie (Unité de Prévention et d'Épidémiologie Génétique, Centre Léon Bérard, 28 rue Laenned, 69008 Lyon, France)
Sornin, Valérie (Centre National de la Recherche Scientifique (França))
Bignon, Yves-Jean (Département d'Oncogénétique, Centre Jean Perrin, Université de Clermont-Ferrand, 58 rue Montalembert, BP 392, 63011 Clermont-Ferrand, France)
Carter, Jonathan (Gynaecological Oncology, Sydney Cancer Centre, Royal Prince Alfred Hospital and University of Sydney, Missenden Road, Camperdown, NSW 2050 Australia)
Van Le, Linda (Gynecologic Oncology Group, Department of OB-GYN, University of North Carolina at Chapel Hill, 103B Physicians' Office Building, CB# 7572, Chapel Hill, NC 27599-7572 USA)
Piedmonte, Marion (Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263-0001 USA)
DiSilvestro, Paul A. (Women & Infants Hospital, 1 Blackstone Place, Providence, RI 02905 USA)
De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
Nevanlinna, Heli (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, PO Box 700, 00029 Helsinki, Finland)
Aittomäki, Kristiina (Department of Clinical Genetics, Helsinki University Central Hospital, Biomedicum Helsinki 1, Haartmaninkatu 8, 00290 Helsinki, Finland)
Jager, Agnes (Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands)
van den Ouweland, Ans M. W. (Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, the Netherlands)
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Aalfs, Cora M. (Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands)
van Leeuwen, Flora E. (The Netherlands Cancer Institute (Amsterdam, Països Baixos))
Hogervorst, Frans B. L. (Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, the Netherlands)
Meijers-Heijboer, Hanne E. J. (Department of Clinical Genetics, VU University Medical Center Amsterdam, De Boelelaan 1118, 1081 HV Amsterdam, the Netherlands)
Oosterwijk, Jan C. (Department of Genetics, University Medical Center, Groningen University, Groningen, the Netherlands)
van Roozendaal, Kees E. P. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands)
Rookus, Matti A. (The Netherlands Cancer Institute (Amsterdam, Països Baixos))
Devilee, Peter (Department of Pathology, Leiden University Medical Center, PO Box 9600, 2300 RC L1Q Leiden, the Netherlands)
van der Luijt, Rob B. (Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands)
Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Ráth György u 7-9, PO Box 1525 Budapest PF 21, 1122 Budapest, Hungary)
Diez, Orland (Vall d'Hebron Institut d'Oncologia)
Teulé, Alex (Institut d'Investigació Biomèdica de Bellvitge)
Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge)
Blanco Guillermo, Ignacio (Institut d'Investigació Biomèdica de Bellvitge)
Del Valle, Jesús (Institut d'Investigació Biomèdica de Bellvitge)
Jakubowska, Anna (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland)
Sukiennicki, Grzegorz (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland)
Gronwald, Jacek (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland)
Lubinski, Jan (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland)
Durda, Katarzyna (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland)
Jaworska-Bieniek, Katarzyna (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland)
Agnarsson, Bjarni A. (Landspitali University Hospital (Reykjavík, Islàndia))
Maugard, Christine (Laboratoire de diagnostic génétique et Service d'Onco-hématologie, Les Hopitaux Universitaire de Strasbourg, Nouvel Hôpital Civil, 1 place de l'Hôpital, BP 426, 67091 Strasbourg, France)
Amadori, Alberto (Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), via Gattamelata 64, 35128 Padua, Italy)
Montagna, Marco (Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), via Gattamelata 64, 35128 Padua, Italy)
Teixeira, Manuel R. (Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Instituto de Ciências Biomédicas Abel Salazar da Universidade do Porto, Rua de Jorge Viterbo Ferreira 228, 4050-313 Porto, Portugal)
Spurdle, Amanda B. (Department of Genetics and Computational Biology, QIMR Berghofer, Brisbane, Australia)
Foulkes, William (Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, 546 Pine Avenue West, Montreal, QC J2W 1S6 Canada)
Olswold, Curtis (Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA)
Lindor, Noralane M. (Department of Health Sciences Research, Mayo Clinic, 13400 East Shea Boulevard, Scottsdale, AZ 85259 USA)
Pankratz, Vernon S. (Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA)
Szabo, Csilla I (National Human Genome Research Institute, National Institutes of Health, Building 31, Room 4B09, 31 Center Drive, MSC 2152, 9000 Rockville Pike, Bethesda, MD 20892-2152 USA)
Lincoln, Anne (Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA)
Jacobs, Lauren (Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA)
Corines, Marina (Memorial Sloan-Kettering Cancer Center, New York)
Robson, Mark (Clinical Genetics Research Laboratory, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA)
Vijai, Joseph (Clinical Genetics Research Laboratory, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA)
Berger, Andreas (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria)
Fink-Retter, Anneliese (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria)
Singer, Christian F. (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria)
Rappaport, Christine (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria)
Kaulich, Daphne Geschwantler (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria)
Pfeiler, Georg (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria)
Tea, Muy-Kheng (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria)
Greene, Mark H. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD USA)
Mai, Phuong L. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD USA)
Rennert, Gad (Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, 2 Horev Street, 34362 Haifa, Israel)
Imyanitov, Evgeny N. (NN Petrov Institute of Oncology, 68 Leningradskaya Street, Pesochny, 197758 St Petersburg Russia)
Mulligan, Anna Marie (Keenan Research Centre, Li Ka Shing Knowledge Institute, St Michael's Hospital, 209 Victoria Street, Toronto, ON M5B 1T8 Canada)
Glendon, Gord (Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital Joseph and Wolf Lebovic Health Complex, 600 University Avenue, Toronto, ON M5G 1X5 Canada)
Andrulis, Irene L. (Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Circle, Toronto, ON M5S 1A8 Canada)
Tchatchou, Sandrine (Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital Joseph and Wolf Lebovic Health Complex, 600 University Avenue, Toronto, ON M5G 1X5 Canada)
Toland, Amanda Ewart (The Ohio State University Comprehensive Cancer Center - Arthur G James Cancer Hospital and Richard J Solove Research Institute (OSUCCC - James), 460 West 10th Avenue, Columbus, OH 43210 USA)
Pedersen, Inge Sokilde (Aalborg University Hospital (Dinamarca))
Thomassen, Mads (Odense University Hospital (Dinamarca))
Kruse, Torben A. (Odense University Hospital (Dinamarca))
Jensen, Uffe Birk (Aarhus University Hospital (Aarhus, Dinamarca))
Caligo, Maria (Laboratorio di Genetica Oncologica, Divisione di Anatomia Patologica e di Diagnostica Molecolare ed Ultrastrutturale, Azienda Ospedaliero Universitaria Pisana - Ospedale S Chiara, via Roma 67, 56126 Pisa, Italy)
Friedman, Eitan (Sheba Laboratory of Molecular Genetics, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, 52621 Tel Aviv, Israel)
Zidan, Jamal (Institute of Oncology, Rivka Ziv Medical Center, Maimonides, 13100 Safed, Israel)
Laitman, Yael (Sheba Laboratory of Molecular Genetics, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, 52621 Tel Aviv, Israel)
Lindblom, Annika (Karolinska University Hospital and Karolinska Institutet (Suècia))
Melin, Beatrice (Oncology, Department of Radiation Sciences, Umeå University, SE-901 87 Umeå, Sweden)
Arver, Brita (Karolinska University Hospital and Karolinska Institutet (Suècia))
Loman, Niklas (Division of Oncology and Pathology, Department of Clinical Sciences, Lund University Hospital, Barngatan 2B, SE-221 85 Lund, Sweden)
Rosenquist, Richard (Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden)
Olopade, Olufunmilayo I (Center for Clinical Cancer Genetics and Global Health, The University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637 USA)
Nussbaum, Robert L. (Department of Medicine and Genetics, University of California, San Francisco, CA USA)
Ramus, Susan J. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California, 1441 Eastlake Avenue, Norris Comprehensive Cancer Center, NOR-4435, Los Angeles, CA 90089-9175 USA)
Nathanson, Katherine L. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Suite 750, Philadelphia, PA 19104-3309 USA)
Domchek, Susan M. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Suite 750, Philadelphia, PA 19104-3309 USA)
Rebbeck, Timothy R. (Department of Epidemiology and Biostatistics, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Suite 750, Philadelphia, PA 19104-3309 USA)
Arun, Banu K. (Division of Cancer Medicine, Department of Breast Medical Oncology, The University of Texas MD Anderson Cancer Center, Unit 1354, PO Box 301439, Houston, TX 77230-1439 USA)
Mitchell, Gillian (Sir Peter MacCallum Department of Oncology, The University of Melbourne, Level 5, 161 Barry Street, Parkville, 3010 VIC Australia)
Karlan, Beth Y (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica))
Lester, Jenny (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica))
Orsulic, Sandra (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica))
Stoppa-Lyonnet, Dominique (Université Paris Descartes)
Thomas, Gilles (Institut National du Cancer (INCa), La Fondation Synergie Lyon Cancer, Centre Léon Bérard, 28 rue Laënnec, 69008 Lyon, Cedex 08 France)
Simard, Jacques (Centre de recherche du Centre hospitalier universitaire de Québec, Laval University, Charlesbourg, PQ Canada)
Couch, Fergus J. (Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA)
Offit, Kenneth (Clinical Genetics Research Laboratory, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA)
Easton, Douglas F. (University of Cambridge. Centre for Cancer Genetic Epidemiology)
Chenevix-Trench, Georgia (Department of Genetics and Computational Biology, QIMR Berghofer, Brisbane, Australia)
Antoniou, Antonis C. (University of Cambridge. Centre for Cancer Genetic Epidemiology)
Mazoyer, Sylvie (Université Lyon 1, 69100 Villeurbanne, France)
Phelan, Catherine M. (Department of Cancer Epidemiology, Moffitt Cancer Center, 12902 Magnolia Drive, Tampa, FL 33612 USA)
Sinilnikova, Olga M. (Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon - Centre Léon Bérard, 69373 Lyon, Cedex 08 France)
Cox, David G. (Université Lyon 1, 69100 Villeurbanne, France)
Universitat Autònoma de Barcelona

Data: 2015
Resum: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0. 55; 95% confidence interval (CI), 0. 34 to 0. 88; P = 0. 01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0. 62 (95% CI, 0. 40 to 0. 95; P = 0. 03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. The online version of this article (doi:10. 1186/s13058-015-0567-2) contains supplementary material, which is available to authorized users.
Ajuts: Ministerio de Sanidad y Consumo D06/0020/1051
Instituto de Salud Carlos III PI09/02483
Instituto de Salud Carlos III PI10/01422
Instituto de Salud Carlos III PI10/00748
Ministerio de Economía y Competitividad PI13/00285
Ministerio de Economía y Competitividad PI13/00189
Agència de Gestió d'Ajuts Universitaris i de Recerca 2009SGR290
Ministerio de Economía y Competitividad PI13/00189
Agència de Gestió d'Ajuts Universitaris i de Recerca 2009SGR283
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. Creative Commons
Llengua: Anglès
Document: Article ; recerca ; Versió publicada
Publicat a: Breast cancer research, Vol. 17 (april 2015) , ISSN 1465-542X

DOI: 10.1186/s13058-015-0567-2
PMID: 25925750


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