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. 2009 Dec 15;101(12):2048-54.
doi: 10.1038/sj.bjc.6605416. Epub 2009 Nov 17.

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)

A Osorio  1 , R L Milne, G Pita, P Peterlongo, T Heikkinen, J Simard, G Chenevix-Trench, A B Spurdle, J Beesley, X Chen, S Healey; KConFab; S L Neuhausen, Y C Ding, F J Couch, X Wang, N Lindor, S Manoukian, M Barile, A Viel, L Tizzoni, C I Szabo, L Foretova, M Zikan, K Claes, M H Greene, P Mai, G Rennert, F Lejbkowicz, O Barnett-Griness, I L Andrulis, H Ozcelik, N Weerasooriya; OCGN; A-M Gerdes, M Thomassen, D G Cruger, M A Caligo, E Friedman, B Kaufman, Y Laitman, S Cohen, T Kontorovich, R Gershoni-Baruch, E Dagan, H Jernström, M S Askmalm, B Arver, B Malmer; SWE-BRCA; S M Domchek, K L Nathanson, J Brunet, T Ramón Y Cajal, D Yannoukakos, U Hamann; HEBON; F B L Hogervorst, S Verhoef, E B Gómez García, J T Wijnen, A van den Ouweland; EMBRACE; D F Easton, S Peock, M Cook, C T Oliver, D Frost, C Luccarini, D G Evans, F Lalloo, R Eeles, G Pichert, J Cook, S Hodgson, P J Morrison, F Douglas, A K Godwin; GEMO; O M Sinilnikova, L Barjhoux, D Stoppa-Lyonnet, V Moncoutier, S Giraud, C Cassini, L Olivier-Faivre, F Révillion, J-P Peyrat, D Muller, J-P Fricker, H T Lynch, E M John, S Buys, M Daly, J L Hopper, M B Terry, A Miron, Y Yassin, D Goldgar; Breast Cancer Family Registry; C F Singer, D Gschwantler-Kaulich, G Pfeiler, A-C Spiess, Thomas V O Hansen, O T Johannsson, T Kirchhoff, K Offit, K Kosarin, M Piedmonte, G C Rodriguez, K Wakeley, J F Boggess, J Basil, P E Schwartz, S V Blank, A E Toland, M Montagna, C Casella, E N Imyanitov, A Allavena, R K Schmutzler, B Versmold, C Engel, A Meindl, N Ditsch, N Arnold, D Niederacher, H Deissler, B Fiebig, R Varon-Mateeva, D Schaefer, U G Froster, T Caldes, M de la Hoya, L McGuffog, A C Antoniou, H Nevanlinna, P Radice, J Benítez; CMBA
Collaborators, Affiliations

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)

A Osorio et al. Br J Cancer. .

Abstract

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.

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