Frequency of Germline and Somatic and Mutations in Prostate Cancer: An Updated Systematic Review and Meta-Analysis.

In prostate cancer (PC), the presence of somatic and/or germline mutation provides prognostic and predictive information. Meta-analysis aims to estimate the frequency of mutations in patients with PC (PCp). In November 2022, we reviewed literature searching for all articles testing the proportion of mutations in PCp, without explicit enrichment for familiar risk. The frequency of germline and somatic and/or mutations was described in three stage disease populations (any/metastatic/metastatic castration-resistant PC, mCRPC). Out of 2253 identified articles, 40 were eligible. Here, 0.73% and 1.20% of any stage PCp, 0.94% and 1.10% of metastatic PCp, and 1.21% and 1.10% of mCRPC patients carried germline and somatic BRCA1 mutation, respectively; 3.25% and 6.29% of any stage PCp, 4.51% and 10.26% of metastatic PCp, and 3.90% and 10.52% of mCRPC patients carried germline and somatic BRCA2 mutation, respectively; and 4.47% and 7.18% of any stage PCp, 5.84% and 10.94% of metastatic PCp, and 5.26% and 11.26% of mCRPC patients carried germline and somatic mutation, respectively. Somatic mutations are more common than germline and are more common than mutations; the frequency of mutations is higher in the metastatic setting. Despite that testing in PC is now standard in clinical practice, several open questions remain.