Lee DJ, Hausler R, Kelly G, et al. - In localized prostate cancer (PrCa) patients, risk stratification is important to select suitable patients for germline genetic testing.

• By cross-sectionally analyzing 2391 localized PrCa patients, DNA repair genes related to localized PrCa were investigated in a diverse academic biobank.

• Lower DNA repair gene mutation rates were found in AFR (genetically determined African ancestry) individuals with localized PrCa vs EUR (European ancestry) individuals (1.4% vs 4.0%).

• In localized PrCa patients, the observed mutation rates were similar to those in biobank and gnomAD controls (EUR: 4.0% vs 2.8%, p = 0.15, vs 3.1%, p = 0.04; AFR: 1.4% vs 1.8%, p = 0.8, vs 2.1%, p = 0.5).

• According to gene-based rare variant association testing, significant enrichment of only BRCA2 mutations was evident vs gnomAD controls of EUR ancestry (1.0% vs 0.28%).

• Only in high-risk, very-high-risk localized, and node-positive PrCa patients, the observed mutation rates in genes with published evidence of association with PrCa exceeded 2.5%.