Exome sequencing of affected duos and trios uncovers PRUNE2 as a novel prostate cancer predisposition gene.

ABSTRACT:

Background

Prostate cancer (PrCa) is one of the most hereditable human cancers, however, only a small fraction of patients has been shown to carry deleterious variants in known cancer predisposition genes.

Methods

Whole-exome sequencing was performed in multiple affected members of 45 PrCa families to select the best candidate genes behind part of the PrCa missing hereditability. Recurrently mutated genes were prioritised, and further investigated by targeted next-generation sequencing in the whole early-onset and/or familial PrCa series of 462 patients.

Results

PRUNE2 stood out from our analysis when also considering the available data on its association with PrCa development. Ten germline pathogenic/likely pathogenic variants in the PRUNE2 gene were identified in 13

SUBMITTER: Cardoso M 

PROVIDER: S-EPMC10006409 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature