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 Teixeira

Published 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.

Keyphrases

prostate cancer
early onset
copy number
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
genome wide
late onset
prognostic factors
gene expression
dna repair
genome wide analysis