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, A.
- Rozkrut, D.
- Antoniou, A.
- Hamann, U.
- Scott, R. J.
- McGuffog, L.
- Healy, S.
- Sinilnikova, O. M.
- Rennert, G.
- Lejbkowicz, F.
- Flugelman, A.
- Andrulis, I. L.
- Glendon, G.
- Ozcelik, H.
- Thomassen, M.
- Paligo, M.
- Aretini, P.
- Kantala, J.
- Aroer, B.
- Von Wachenfeldt, A.
- Liljegren, A.
- Loman, Niklas
- Herbst, K.
- Kristoffersson, U.
- Rosenquist, R.
- Karlsson, P.
- Stenmark-Askmalm, M.
- Melin, B.
- Nathanson, K. L.
- Domchek, S. M.
- Byrski, T.
- Huzarski, T.
- Gronwald, J.
- Menkiszak, J.
- Cybulski, C.
- Serrano, P.
- Osorio, A.
- Cajal, T. R.
- Tsitlaidou, M.
- Benitez, J.
- Gilbert, M.
- Rookus, M.
- Aalfs, C. M.
- Kluijt, I.
- Boessenkool-Pape, J. L.
- Meijers-Heijboer, H. E. J.
- Oosterwijk, J. C.
- van Asperen, C. J.
- Blok, M. J.
- Nelen, M. R.
- van den Ouweland, A. M. W.
- Seynaeve, C.
- van der Luijt, R. B.
- Devilee, P.
- Easton, D. F.
- Peock, S.
- Frost, D.
- Platte, R.
- Ellis, S. D.
- Fineberg, E.
- Evans, D. G.
- Lalloo, F.
- Eeles, R.
- Jacobs, C.
- Adlard, J.
- Davidson, R.
- Eccles, D.
- Cole, T.
- Cook, J.
- Godwin, A.
- Bove, B.
- Stoppa-Lyonnet, D.
- Caux-Moncoutier, V.
- Belotti, M.
- Tirapo, C.
- Mazoyer, S.
- Barjhoux, L.
- Boutry-Kryza, N.
- Pujol, P.
- Coupier, I.
- Peyrat, J-P
- Vennin, P.
- Muller, D.
- Fricker, J-P
- Venat-Bouvet, L.
- Johannsson, OTh
- Isaacs, C.
- Schmutzler, R.
- Wappenschmidt, B.
- Meindl, A.
- Arnold, N.
- Varon-Mateeva, R.
- Niederacher, D.
- Sutter, C.
- Deissler, H.
- Preisler-Adams, S.
- Simard, J.
- Soucy, P.
- Durocher, F.
- Chenevix-Trench, G.
- Beesley, J.
- Chen, X.
- Rebbeck, T.
- Couch, F.
- Wang, X.
- Lindor, N.
- Fredericksen, Z.
- Pankratz, V. S.
- Peterlongo, P.
- Bonanni, B.
- Fortuzzi, S.
- Peissel, B.
- Szabo, C.
- Mai, P. L.
- Loud, J. T.
- Lubinski, J.
DOIAbstract
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...
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