Heritable mutations in the BRCA1 and BRCA2 and other genes in the DNA double-strand break (DSB) repair pathway disrupt binding of the encoded proteins, transport into the nucleus and initiation of homologous recombination, thereby increasing cancer risk [Scully, R., Chen, J., Plug, A., Xiao, Y., Weaver, D., Feunteun, J., Ashley, T. and Livingston, D.M. (1997) Association of BRCA1 with Rad51 in ...

Background Breast cancer develops as a result of multiple gene mutations in combination with environmental risk factors. Causative variants in genes such as BRCA1 and/or BRCA2 have been shown to account for hereditary nature of certain breast cancers. However,other genes, such as ATM, PALB2, BRIP1, CHEK, BARD1, while lower in frequency, may also increase breast cancer risk. There are few studie...

Several genes functioning in DNA repair pathways confer susceptibility to epithelial ovarian cancer (EOC). We evaluated the prevalence of coding sequence mutations in 4 DNA repair genes BRIP1, BARD1, NBN1, and PALB2 in 3,236 invasive EOC cases and 3,431 controls of European ancestry, and in 2,133 BRCA1/BRCA2 negative, unaffected women from the UK Familial Ovarian Cancer Screening Study (UKFOCSS...

To determine the prevalence of somatic homologous recombination (HR) gene mutations in uterine serous cancer (USC) and compare these with rates among high-grade ovarian (HGSOC). The American Association for Cancer Research’s (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) database version 12.0 was queried via cBioPortal (http://genie.cbioportal.org). This is a publicly a...