Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

ABSTRACT:

Background

Genetic testing has been conducted in patients with prostate cancer (PCa) using multigene panels, but no centralized guidelines for genetic testing exist. To overcome this limitation, we investigated the demographic and clinical characteristics of patients with pathogenic variants.

Methods

We sequenced eight genes associated with hereditary PCa in 7636 unselected Japanese patients with PCa and 12 366 male, cancer-free control individuals. We assigned clinical significance for all 1456 variants using the American College of Medical Genetics and Genomics guidelines and ClinVar. We compared the frequency of carriers bearing pathogenic variants between cases and control participants with calculated PCa risk in each gene and documented the demographic and clinical char

SUBMITTER: Momozawa Y 

PROVIDER: S-EPMC7156928 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature