High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.

ABSTRACT: Genomic screening of cancer patients for predisposing variants is traditionally based on age at onset, family history and type of cancer. Whereas the clinical guidelines have proven efficient in identifying families exhibiting classical attributes of hereditary cancer, the frequency of patients with alternative presentations is unclear. We identified and characterized germline variants in 636 patients with advanced solid cancer using whole exome sequencing. Pathogenic and likely pathogenic germline variants among 168 genes associated with hereditary cancer were considered. These variants were identified in 17.8% of the patients and within a wide range of cancer types. In particular, patients with mesothelioma, ovarian cancer, cervical cancer, urothelial cancer, and cancer of unknown primar

SUBMITTER: Bertelsen B 

PROVIDER: S-EPMC6588611 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature