Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
Creators: name: Cook, M.
name: Lalloo, F.
name: Stoppa-Lyonnet, D.
name: Lindor, N.
name: Casella, C.
name: Andrulis, I. L.
name: Peterlongo, P.
name: Kaufman, B.
name: Meindl, A.
name: Sinilnikova, O. M.
name: Cruger, D. G.
name: Pfeiler, G.
name: Evans, D. G.
name: Van Den Ouweland, A.
name: Piedmonte, M.
name: Engel, C.
name: Wijnen, J. T.
name: Greene, M. H.
name: Gershoni-Baruch, R.
name: Viel, A.
name: Montagna, M.
name: Cook, J.
name: Benítez, J.
name: Claes, K.
name: Hamann, U.
name: Froster, U. G.
name: Varon-Mateeva, R.
name: Rennert, G.
name: Moncoutier, V.
name: Brunet, J.
name: Eeles, R.
name: Toland, A. E.
name: Fricker, J. P.
name: Versmold, B.
name: Pichert, G.
name: Basil, J.
name: Rodriguez, G. C.
name: Spiess, A. C.
name: Yassin, Y.
name: Oliver, C. T.
name: Arver, B.
name: Pita, G.
name: Barile, M.
name: Muller, D.
name: Deiler, H.
name: Spurdle, A. B.
name: Miron, A.
name: Schwartz, P. E.
name: Beesley, J.
name: Laitman, Y.
name: Malmer, B.
name: Olivier-Faivre, L.
name: Lynch, H. T.
name: Askmalm, M. S.
name: Ditsch, N.
name: Schaefer, D.
name: Hansen, Thomas V.O.
name: Hogervorst, F. B.L.
name: Osorio, A.
name: Garcíla, E. B.Gómez
name: Imyanitov, E. N.
name: McGuffog, L.
name: Wakeley, K.
name: Couch, F. J.
name: Douglas, F.
name: Arnold, N.
name: Ozcelik, H.
name: Johannsson, O. T.
name: Luccarini, C.
name: Boggess, J. F.
name: Jernström, H.
name: Nathanson, K. L.
name: Niederacher, D.
name: Offit, K.
name: Nevanlinna, H.
name: Hopper, J. L.
name: Milne, R. L.
name: Domchek, S. M.
name: Verhoef, S.
name: Weerasooriya, N.
name: Giraud, S.
name: Zikan, M.
name: Fiebig, B.
name: Cassini, C.
name: Gerdes, A. M.
name: Kirchhoff, T.
name: Ramón Y Cajal, T.
name: Chen, X.
name: Easton, D. F.
name: Allavena, A.
name: Peock, S.
name: Goldgar, D.
name: Dagan, E.
name: Godwin, A. K.
name: Caldes, T.
name: Terry, M. B.
name: Peyrat, J. P.
name: Kosarin, K.
name: Barjhoux, L.
name: Barnett-Griness, O.
name: Ding, Y. C.
name: Friedman, E.
name: Thomassen, M.
name: Hodgson, S.
name: Wang, X.
name: Heikkinen, T.
name: Manoukian, S.
name: Morrison, P. J.
name: Daly, M.
name: Tizzoni, L.
name: Yannoukakos, D.
name: Antoniou, A. C.
name: Caligo, M. A.
name: Mai, P.
name: Schmutzler, R. K.
name: Blank, S. V.
name: John, E. M.
name: Healey, S.
name: Foretova, L.
name: Szabo, C. I.
name: Radice, P.
name: Chenevix-Trench, G.
name: Cohen, S.
name: Gschwantler-Kaulich, D.
name: Frost, D.
name: Révillion, F.
name: Singer, C. F.
name: Simard, J.
name: Buys, S.
name: Neuhausen, S. L.
name: De La Hoya, M.
name: Lejbkowicz, F.
name: Kontorovich, T.
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2009

description: Background:In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers.Methods:We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach.Results:We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93–1.04, P=0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89–1.06, P=0.5) mutation carriers.Conclusion:This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.