Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers : Results from a multicenter study
Jakubowska, Anna (Pomeranian Medical University)
Rozkrut, Dominik (University of Szczecin)
Antoniou, Antonis C. (University of Cambridge)
Hamann, Ute (Deutsches Krebsforschungszentrum)
Scott, Rodney J. (University of Newcastle)
McGuffog, Lesley (University of Cambridge)
Healy, Sue (Queensland Institute of Medical Research)
Sinilnikova, Olga M. (Centre de Recherche en Cancérologie de Lyon)
Rennert, Gad (Carmel Medical Center)
Lejbkowicz, Flavio (Carmel Medical Center)
Flugelman, Anath (Carmel Medical Center)
Andrulis, Irene L. (Mount Sinai Hospital)
Glendon, Gord (Mount Sinai Hospital)
Ozcelik, Hilmi (Cancer Care Ontario)
Thomassen, Mads (Odense University Hospital (Dinamarca))
Paligo, M. (University Hospital of Pisa (Pisa, Itàlia))
Aretini, Paolo (University Hospital of Pisa (Pisa, Itàlia))
Kantala, J. (Karolinska University Hospital)
Aroer, B. (Karolinska University Hospital)
Von Wachenfeldt, A. (Karolinska University Hospital)
Liljegren, A. (Karolinska University Hospital)
Loman, N. (Lund University Hospital)
Herbst, K. (Lund University Hospital)
Kristoffersson, U. (Lund University Hospital)
Rosenquist, R. (Uppsala University)
Karlsson, P. (Sahlgrenska University Hospital (Suècia))
Stenmark-Askmalm, M. (University Hospital)
Melin, B. (Umeå University)
Nathanson, K.L. (University of Pennsylvania)
Domchek, S.M. (University of Pennsylvania)
Byrski, T. (Pomeranian Medical University)
Huzarski, T. (Pomeranian Medical University)
Gronwald, J. (Pomeranian Medical University)
Menkiszak, J. (Pomeranian Medical University)
Cybulski, Cezary (Pomeranian Medical University)
Serrano, P. (Pomeranian Medical University)
Osorio, A. (Centro de Investigación Biomédica en Red y Enfermedades Raras)
Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau)
Tsitlaidou, M. (National Centre for Scientific Research Demokritos, Aghia Paraskevi Attikis)
Benítez, J. (Centro Nacional de Investigaciones Oncológicas)
Gilbert, M. (Deutsches Krebsforschungszentrum)
Rookus, M. (The Netherlands Cancer Institute (Amsterdam, Països Baixos))
Aalfs, Cora M (Academic Medical Center (Amsterdam, Països Baixos))
Kluijt, I. (The Netherlands Cancer Institute (Amsterdam, Països Baixos))
Boessenkool-Pape, J.L. (The Netherlands Cancer Institute (Amsterdam, Països Baixos))
Meijers-Heijboer, H.E.J. (VU Medical Center)
Oosterwijk, J.C. (Groningen University)
Van Asperen, C.J. (University Medical Center Leiden)
Blok, M.J. (University Hospital Maastricht)
Nelen, M.R. (Radboud University Nijmegen Medical Centre)
Van Den Ouweland, A.M.W. (Erasmus University Medical Center)
Seynaeve, C. (Erasmus University Medical Center)
Van Der Luijt, R.B. (University Medical Center Utrecht)
Devilee, P. (Leiden University Medical Center)
Easton, D.F. (University of Cambridge)
Peock, S. (University of Cambridge)
Frost, D. (University of Cambridge)
Platte, R. (University of Cambridge)
Ellis, S.D. (University of Cambridge)
Fineberg, E. (University of Cambridge)
Evans, D.G. (Central Manchester University Hospitals NHS Foundation Trust)
Lalloo, F. (Central Manchester University Hospitals NHS Foundation Trust)
Eeles, R. (The Royal Marsden NHS Foundation Trust)
Jacobs, C. (Guy's and St Thomas' NHS Foundation Trust (Regne Unit))
Adlard, J. (Yorkshire Regional Genetics Service)
Davidson, R. (Yorkhill Hospitals (Glasgow, Regne Unit))
Eccles, D. (Southampton University Hospitals NHS Trust)
Cole, T. (Birmingham Women's Hospital)
Cook, J. (Sheffield Children's Hospital (Sheffield, Regne Unit))
Godwin, A. (University of Kansas Medical Center)
Bove, B. (Fédération Nationale des Centres de Lutte Contre le Cancer)
Stoppa-Lyonnet, D. (Université Paris Descartes)
Caux-Moncoutier, V. (Institut Curie)
Belotti, M. (Institut Curie)
Tirapo, C. (Institut Curie)
Mazoyer, S. (Université Lyon 1)
Barjhoux, L. (Université Lyon 1)
Boutry-Kryza, N. (Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard)
Pujol, P. (CRCM Val d'Aurelle)
Coupier, I. (CRLCC Val d'Aurelle)
Peyrat, J.P. (Centre Oscar Lambret)
Vennin, P. (Centre Oscar Lambret)
Muller, D. (CLCC Paul Strauss)
Fricker, J.P. (UCLCC Paul Strauss)
Venat-Bouvet, L. (Centre Hospitalier Universitaire Dupuytren)
Johannsson, O.T. (University of Iceland)
Isaacs, Claudine (Georgetown University)
Schmutzler, R. (Uniklinik Köln (Colònia, Alemanya))
Wappenschmidt, B. (Uniklinik Köln (Colònia, Alemanya))
Meindl, A. (Ludwig-Maximillians University Munich)
Arnold, N. (Campus Kiel Christian-Albrechts University)
Varon-Mateeva, Raymonda (Institute of Human Genetics)
Niederacher, D. (Heinrich-Heine University)
Sutter, C. (Heidelberg University Hospital (Alemanya))
Deissler, H. (University Hospital)
Preisler-Adams, S. (University of Münster)
Simard, J. (Laval University)
Soucy, P. (Laval University)
Durocher, F. (Laval University)
Chenevix-Trench, G. (Queensland Institute of Medical Research)
Beesley, J. (Queensland Institute of Medical Research)
Chen, X. (KConFab Investigators-Peter MacCallum Cancer Center)
Rebbeck, T. (University of Pennsylvania)
Couch, F. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Wang, X. (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Lindor, N. (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Fredericksen, Z. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Pankratz, V.S. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Peterlongo, P. (Fondazione Istituto FIRC di Oncologia Molecolare)
Bonanni, B. (Istituto Europeo di Oncologia)
Fortuzzi, S. (IFOM Istituto Fondazione di Oncologia Molecolare (Milà, Itàlia))
Peissel, B. (Fondazione IRCCS Istituto Nazionale dei Tumori)
Szabo, C. (Mayo Clinic (Rochester, Estats Units d'Amèrica))
Mai, P.L. (National Cancer Institute (Rockville, Estats Units d'Amèrica))
Loud, J.T. (National Cancer Institute (Rockville, Estats Units d'Amèrica))
Lubinski, J. (Pomeranian Medical University)
Universitat Autònoma de Barcelona

Data:	2012
Resum:	Background: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity. Methods: To evaluate the potential role of genetic variants within PHB and MTHFR in breast and ovarian cancer risk, 4102 BRCA1 and 2093 BRCA2 mutation carriers, and 6211 BRCA1 and 2902 BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) were genotyped for the PHB 1630 C>T (rs6917) polymorphism and the MTHFR 677 C>T (rs1801133) polymorphism, respectively. Results: There was no evidence of association between the PHB 1630 C>T and MTHFR 677 C>T polymorphisms with either disease for BRCA1 or BRCA2 mutation carriers when breast and ovarian cancer associations were evaluated separately. Analysis that evaluated associations for breast and ovarian cancer simultaneously showed some evidence that BRCA1 mutation carriers who had the rare homozygote genotype (TT) of the PHB 1630 C>T polymorphism were at increased risk of both breast and ovarian cancer (HR 1. 50, 95%CI 1. 10-2. 04 and HR 2. 16, 95%CI 1. 24-3. 76, respectively). However, there was no evidence of association under a multiplicative model for the effect of each minor allele. Conclusion: The PHB 1630TT genotype may modify breast and ovarian cancer risks in BRCA1 mutation carriers. This association need to be evaluated in larger series of BRCA1 mutation carriers. © 2012 Cancer Research UK All rights reserved.
Ajuts:	Ministerio de Ciencia e Innovación SAF2010-20493
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials i que es distribueixin sota la mateixa llicència que regula l'obra original. Cal que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	BRCA1/2 mutation carriers ; Breast/ovarian cancer risk ; PHB 1630 C4T polymorphism ; MTHFR 677 C4T polymorphism
Publicat a:	British journal of cancer, Vol. 106 Núm. 12 (may 2012) , p. 2016-2024, ISSN 1532-1827

DOI: 10.1038/bjc.2012.160
PMID: 22669161

9 p, 371.5 KB

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