Different association of gBRCA1 and gBRCA2 variants with HER2-low status in invasive breast cancer: findings from a Ukrainian study.

ABSTRACT: HER2-low breast cancer (BC) representing about 40-55% of all BC has emerged as a targetable entity. However, little is known about the link between germline BRCA1/2 mutations (gBRCA1/2) and HER2-low status in BC, especially in Ukrainian population. This study aims to elaborate on the rates of HER2-low status among patients with sporadic and BRCA1/2-associated hereditary BC in the Ukrainian population and investigate the relationship between gBRCA1/2 and HER2 status. This was a retrospective multicenter cross-sectional study on 1412 cases of BC. HER2 status was assessed according to ASCO-CAP Guidelines. All patients underwent germline NGS testing to detect SNV and indel variants in BRCA1 and BRCA2 genes. Overall, gBRCA1/2 genetic variants were found in 212 (15.0%) patients with BC. gBRCA1 v

SUBMITTER: Livshun S 

PROVIDER: S-EPMC12774882 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature