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) Journal Article

   

Authors:	Osorio, A.; Milne, R. L.; Pita, G.; Peterlongo, P.; Heikkinen, T.; Simard, J.; Chenevix-Trench, G.; Spurdle, A. B.; Beesley, J.; Chen, X.; Healey, S.; Neuhausen, S. L.; Ding, Y. C.; Couch, F. J.; Wang, X.; Lindor, N.; Manoukian, S.; Barile, M.; Viel, A.; Tizzoni, L.; Szabo, C. I.; Foretova, L.; Zikan, M.; Claes, K.; Greene, M. H.; Mai, P.; Rennert, G.; Lejbkowicz, F.; Barnett-Griness, O.; Andrulis, I. L.; Ozcelik, H.; Weerasooriya, N.; Gerdes, A. M.; Thomassen, M.; Cruger, D. G.; Caligo, M. A.; Friedman, E.; Kaufman, B.; Laitman, Y.; Cohen, S.; Kontorovich, T.; Gershoni-Baruch, R.; Dagan, E.; Jernström, H.; Askmalm, M. S.; Arver, B.; Malmer, B.; Domchek, S. M.; Nathanson, K. L.; Brunet, J.; Ramón Y Cajal, T.; Yannoukakos, D.; Hamann, U.; Hogervorst, F. B. L.; Verhoef, S.; Garcíla, E. B. G.; Wijnen, J. T.; Van Den Ouweland, A.; Easton, D. F.; Peock, S.; Cook, M.; Oliver, C. T.; Frost, D.; Luccarini, C.; Evans, D. G.; Lalloo, F.; Eeles, R.; Pichert, G.; Cook, J.; Hodgson, S.; Morrison, P. J.; Douglas, F.; Godwin, A. K.; Sinilnikova, O. M.; Barjhoux, L.; Stoppa-Lyonnet, D.; Moncoutier, V.; Giraud, S.; Cassini, C.; Olivier-Faivre, L.; Révillion, F.; Peyrat, J. P.; Muller, D.; Fricker, J. P.; Lynch, H. T.; John, E. M.; Buys, S.; Daly, M.; Hopper, J. L.; Terry, M. B.; Miron, A.; Yassin, Y.; Goldgar, D.; Singer, C. F.; Gschwantler-Kaulich, D.; Pfeiler, G.; Spiess, A. C.; Hansen, T. V. O.; Johannsson, O. T.; Kirchhoff, T.; Offit, K. E.; Kosarin, K.
Article 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 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, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P0.5) mutation carriers. Conclusion: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out. © 2009 Cancer Research UK.
Keywords:	retrospective studies; gene mutation; gene sequence; major clinical study; single nucleotide polymorphism; mutation; dna-binding proteins; polymorphism, single nucleotide; cancer risk; gene; cancer susceptibility; cohort studies; breast cancer; genetic association; genotype; brca1 protein; brca2 protein; heterozygote; retrospective study; genes, brca1; genes, brca2; genetic susceptibility; brca1; ercc4 gene; brca2; ercc4
Journal Title:	British Journal of Cancer
Volume:	101
Issue:	12
ISSN:	0007-0920
Publisher:	Nature Publishing Group
Date Published:	2009-12-01
Start Page:	2048
End Page:	2054
Language:	English
DOI:	10.1038/sj.bjc.6605416
PUBMED:	19920816
PROVIDER:	scopus
PMCID:	PMC2795432
DOI/URL:	http://www.scopus.com/inward/record.url?eid=2-s2.0-71649085141&partnerID=40&md5=d8f973d2c448263cf09d5aa5947d31fa
Notes:	--- - "Cited By (since 1996): 2" - "Export Date: 30 November 2010" - "CODEN: BJCAA" - "Source: Scopus"

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