Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.

ABSTRACT: Risk assessment for prostate cancer is challenging due to its genetic heterogeneity. In this study, our goal was to develop an operational framework to select and evaluate gene variants that may contribute to familial prostate cancer risk. Drawing on orthogonal sources, we developed a candidate list of genes relevant to prostate cancer, then analyzed germline exomes from 12 case-only prostate cancer patients from high-risk families to identify patterns of protein-damaging gene variants. We described an average of 5 potentially disruptive variants in each individual and annotated them in the context of public databases representing human variation. Novel damaging variants were found in several genes of relevance to prostate cancer. Almost all patients had variants associated with defects in

SUBMITTER: Nicolas E 

PROVIDER: S-EPMC4741850 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature