Exome sequencing of affected duos and trios uncovers PRUNE2 as a novel prostate cancer predisposition gene.
Marta CardosoSofia MaiaAndreia BrandãoRuta SahasrabudhePaul LottNatalia BelterLuis G Carvajal CarmonaPaula PauloManuel R TeixeiraPublished in: British journal of cancer (2022)
This is the first report of pathogenic/likely pathogenic germline variants in PRUNE2 in PrCa patients, namely in those with early-onset/familial disease. Importantly, PRUNE2 was the most frequently mutated gene in the whole series, with a deleterious germline variant identified in 2.8% of the patients, representing a novel prostate cancer predisposition gene.