Abstract A25: Investigating the co-occurrence of potentially pathogenic DNA repair pathways alleles in BRCA1 or BRCA2 mutation carrier women with ovarian cancer.

Recurrent mutations in BRCA1 and BRCA2, which are genes that play a major role in the homologous recombination (HR) DNA repair pathway, account for a significant proportion of hereditary breast cancer (HBC) and or breast-ovarian cancer (HBOC) families of French Canadian (FC) descent due to common founders. This has facilitated genetic testing for establishing germline mutation carrier status in hereditary cancer clinics in Quebec for offering cancer surveillance and prevention options for women at risk for hereditary breast and other cancers. Recent evidence suggests that rare germline mutations in other members of HR pathway also confer an increased risk to these cancers, and thus could account in part for some of the HBC and HBOC families from the general population found negative for germline BRCA1 and BRCA2 mutations. Interestingly, our group has identified rare potentially pathogenic germline alleles in other DNA repair pathway genes in BRCA1 or BRCA2 mutation carrier FC women with breast cancer from HBC families. This prompted our investigation of the co-occurrence of germline mutations in selected DNA repair genes in BRCA1 or BRCA2 mutation carrier FC women with ovarian cancer. Whole Exome Sequencing (WES) analysis was performed on 15 BRCA1 or BRCA2 mutation carriers from HBOC families with at least two cases of ovarian cancer. Data was analyzed for potentially damaging rare alleles occurring in 178 genes known to be involved in different DNA repair pathways, including...
Source: Molecular Cancer Research - Category: Cancer & Oncology Authors: Tags: DNA Repair Gene Mutations in Cancer Genomes: Poster Presentations - Proffered Abstracts Source Type: research