Frequency and prognostic value of mutations associated with the homologous recombination DNA repair pathway in a large pan cancer cohort.

ABSTRACT: PARP inhibitors have shown remarkable efficacy in the clinical management of several BRCA-mutated tumors. This approach is based on the long-standing hypothesis that PARP inhibition will impair the repair of single stranded breaks, causing synthetic lethality in tumors with loss of high-fidelity double-strand break homologous recombination. While this is now well accepted and has been the basis of several successful clinical trials, emerging evidence strongly suggests that mutation to several additional genes involved in homologous recombination may also have predictive value for PARP inhibitors. While this notion is supported by early clinical evidence, the mutation frequencies of these and other functionally related genes are largely unknown, particularly in cancers not classically assoc

SUBMITTER: Principe DR 

PROVIDER: S-EPMC7677533 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature