Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

ABSTRACT:

Importance

The clinical importance of genetic testing of BRCA1 and BRCA2 in breast, ovarian, prostate, and pancreatic cancers is widely recognized. However, there is insufficient evidence to include other cancer types that are potentially associated with BRCA1 and BRCA2 in clinical management guidelines.

Objective

To evaluate the association of BRCA1 and BRCA2 pathogenic variants with additional cancer types and their clinical characteristics in 100 914 individuals across 14 cancer types.

Design, setting, and participants

This case-control analysis to identify cancer types and clinical characteristics associated with pathogenic variants in BRCA1 and BRCA2 included DNA samples and clinical information from 63 828 patients with 14 common cancer types and 37 086 controls

SUBMITTER: Momozawa Y 

PROVIDER: S-EPMC9011177 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature