Molecular and Genetic Landscapes of Hereditary Breast Cancer: Clinical Significance of BRCA1 and BRCA2 Mutations in the Uzbek Population

Abstract

Hereditary breast cancer (HBC) accounts for approximately 5–10% of all breast cancer cases, with the majority being attributed to germline mutations in the BRCA1 and BRCA2 genes. This study aims to evaluate the clinical and morphological characteristics of BRCA-associated breast cancer compared to sporadic cases within the population of Uzbekistan. A cohort of 114 patients was analyzed, utilizing PCR-based genetic testing and immunohistochemical profiling. The results indicate that BRCA1 mutations are significantly associated with the Triple-Negative Breast Cancer (TNBC) phenotype and higher histological grades (p < 0.05). Statistical analysis confirms that mutation carriers present at a significantly younger age (38.4 ± 4.2 years) compared to the control group (52.1 ± 6.3 years). These findings underscore the necessity for early genetic screening and the implementation of PARP inhibitors in personalized treatment protocols to improve survival outcomes in the region.