@article{2385cf8afd5d47ff93bdad097b0199e6,
title = "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)",
abstract = "BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I 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. British Journal of Cancer (2009) 101, 2048-2054. doi: 10.1038/sj.bjc.6605416 www.bjcancer.com Published online 17 November 2009 (C) 2009 Cancer Research UK",
keywords = "Brca1, Brca2, Ercc4, Breast cancer",
author = "A. Osorio and Milne, {R. L.} and G. Pita and P. Peterlongo and T. Heikkinen and J. Simard and G. Chenevix-Trench and Spurdle, {A. B.} and J. Beesley and X. Chen and S. Healey and Neuhausen, {S. L.} and Ding, {Y. C.} and Couch, {F. J.} and X. Wang and N. Lindor and S. Manoukian and M. Barile and A. Viel and L. Tizzoni and Szabo, {C. I.} and L. Foretova and M. Zikan and K. Claes and Greene, {M. H.} and P. Mai and G. Rennert and F. Lejbkowicz and O. Barnett-Griness and Andrulis, {I. L.} and H. Ozcelik and N. Weerasooriya and A-M Gerdes and M. Thomassen and Cruger, {D. G.} and Caligo, {M. A.} and E. Friedman and B. Kaufman and Y. Laitman and S. Cohen and T. Kontorovich and R. Gershoni-Baruch and E. Dagan and H. Jernstrom and Askmalm, {M. S.} and B. Arver and B. Malmer and Domchek, {S. M.} and S. Verhoef and {Gomez Garcia}, {E. B.} and {Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)} and OCGN and {SWE BRCA} and HEBON and EMBRACE and GEMO and {Breast Cancer Family Registry} and CIMBA",
year = "2009",
month = dec,
day = "8",
doi = "10.1038/sj.bjc.6605416",
language = "English",
volume = "101",
pages = "2048--2054",
journal = "British Journal of Cancer",
issn = "0007-0920",
publisher = "Springer",
number = "12",
}