RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families

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Pelttari , L M , Kiiski , J I , Ranta , S , Vilske , S , Blomqvist , C , Aittomaki , K & Nevanlinna , H 2015 , ' RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families ' , SpringerPlus , vol. 4 , 92 . https://doi.org/10.1186/s40064-015-0880-3

Title: RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families
Author: Pelttari, Liisa M.; Kiiski, Johanna I.; Ranta, Salla; Vilske, Sara; Blomqvist, Carl; Aittomaki, Kristiina; Nevanlinna, Heli
Contributor: University of Helsinki, Department of Obstetrics and Gynecology
University of Helsinki, Clinicum
University of Helsinki, Department of Obstetrics and Gynecology
University of Helsinki, Department of Obstetrics and Gynecology
University of Helsinki, Clinicum
University of Helsinki, Medicum
University of Helsinki, Department of Obstetrics and Gynecology
Date: 2015-02-24
Language: eng
Number of pages: 8
Belongs to series: SpringerPlus
ISSN: 2193-1801
URI: http://hdl.handle.net/10138/165518
Abstract: Majority of the known breast cancer susceptibility genes have a role in DNA repair and the most important high-risk genes BRCA1 and BRCA2 are specifically involved in the homologous recombination repair (HRR) of DNA double-strand breaks. A central player in HRR is RAD51 that binds DNA at the damage site. The RAD51 paralogs RAD51B, RAD51C, RAD51D, XRCC2, and XRCC3 facilitate the binding of RAD51 to DNA. While germline mutations in RAD51C and RAD51D are associated with high ovarian cancer risk and RAD51B polymorphisms with breast cancer, the contribution of RAD51, XRCC3, and XRCC2 is more unclear. To investigate the role of RAD51, XRCC3, and XRCC2 in breast cancer predisposition and to identify putative recurrent founder mutations in the Finnish population where such mutations have been observed in most of the currently known susceptibility genes, we screened 182 familial Finnish breast or ovarian cancer patients for germline variation in the RAD51 and XRCC3 genes and 342 patients for variation in XRCC2, with a subset of the patients selected on the basis of decreased RAD51 protein expression on tumors. We also performed haplotype analyses for 1516 breast cancer cases and 1234 controls to assess the common variation in these genes. No pathogenic mutations were detected in any of the genes and the distribution of haplotypes was similar between cases and controls. Our results suggest that RAD51, XRCC3, and XRCC2 do not substantially contribute to breast cancer predisposition in the Finnish population.
Subject: Breast cancer
RAD51
XRCC3
XRCC2
OVARIAN-CANCER
BRCA2 MUTATIONS
ASSOCIATION CONSORTIUM
CONFER SUSCEPTIBILITY
RISK
GENE
POLYMORPHISMS
VARIANTS
CARRIERS
FINLAND
3122 Cancers
3123 Gynaecology and paediatrics
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