Genetic risk and clinical implications of BRCA1 and BRCA2 mutations in Turkish triple-negative breast cancer patients.

ABSTRACT:

Background

Triple-negative breast cancer (TNBC) lacks expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). Genetic mutations, particularly in BRCA1 and BRCA2, significantly influence its pathogenesis and clinical outcomes. This study evaluated the prevalence of BRCA1 and BRCA2 mutations in Turkish TNBC patients and investigated associated clinical, demographic, and pathological factors.

Materials and methods

Patients with TNBC who presented to the Cancer Genetics Department at Istanbul University Oncology Institute were included. Peripheral blood mononuclear cells were analyzed for BRCA1 and BRCA2 mutations using the Illumina MiSeq Next Generation Sequencing (NGS) platform. Patients were categorized as BRCA1 +

SUBMITTER: Celik Demirbas B 

PROVIDER: S-EPMC12480218 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature