RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.

ABSTRACT:

Background

Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved in the DNA homologous recombination repair (HRR) pathway, including BRCA1, BRCA2, TP53, ATM, BRIP1, CHEK2 and PALB2, about 70% of breast cancer heritability remains unexplained. Because of their critical functions in maintaining genome integrity and already well-established associations with breast cancer susceptibility, it is likely that additional genes involved in the HRR pathway harbor sequence variants associated with increased risk of breast cancer. RAD51 plays a central biological function in DNA repair and despite the fact that rare, likely dysfunctional variants in three of its five paralogs, RAD51C, RAD51D, and XRCC2, have been associated with br

SUBMITTER: Le Calvez-Kelm F 

PROVIDER: S-EPMC3531476 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature