Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women.

ABSTRACT:

Background

Hereditary cancer and associated high risk genetic variants accountable for 5-10% of all breast cancer cases carry a significant burden on the health system and the pathogenic variants carriers. The harm from these factors can be significantly reduced through the timely detection of genetic alterations and implementation of health monitoring programs for pathogenic variants carriers.

Methods

We conducted a population-based genetic screening of unselected women residing in a large metropolitan area in 2018. Testing targeted eight recurrent BRCA1/2 founder pathogenic variants using validated real-time PCR assays. Women with a detected variant were invited into a structured prospective surveillance program with standardized capture of clinical outcomes. The primary o

SUBMITTER: Bodunova N 

PROVIDER: S-EPMC12713268 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature