Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.

ABSTRACT: Background: Germline mutations in BRCA2 are associated with aggressive prostate cancer. Additional information regarding the clinical phenotype of germline pathogenic variants in other prostate cancer predisposition genes is required. Clinical testing has been limited by evidence, further restricting knowledge of variants that contribute to prostate cancer development. Objective: Prostate cancer patients who were first- and second-degree relatives from multi-case prostate cancer families underwent a gene panel screen to identify novel (non-BRCA) germline pathogenic variants in cancer predisposition genes and define clinical phenotypes associated with each gene. Methods: The germline genomic DNA (gDNA) of 94 index cases with verified p

SUBMITTER: Mondschein R 

PROVIDER: S-EPMC9332384 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature