The tumor mutational landscape of BRCA2-deficient primary and metastatic prostate cancer.

ABSTRACT: Carriers of germline BRCA2 pathogenic sequence variants have elevated aggressive prostate cancer risk and are candidates for precision oncology treatments. We examined whether BRCA2-deficient (BRCA2^d) prostate tumors have distinct genomic alterations compared with BRCA2-intact (BRCA2ⁱ) tumors. Among 2536 primary and 899 metastatic prostate tumors from the ICGC, GENIE, and TCGA databases, we identified 138 primary and 85 metastatic BRCA2^d tumors. Total tumor mutation burden (TMB) was higher among primary BRCA2^d tumors, although pathogenic TMB did not differ by tumor BRCA2 status. Pathogenic and total single nucleotide variant (SNV) frequencies at KMT2D were higher in BRCA2^d primary tumors, as was the total SNV frequency at KMT2D in BRCA

SUBMITTER: Kensler KH 

PROVIDER: S-EPMC9205939 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature