The BRCA1 and BRCA2 Mutation Spectrum in Women with Ovarian Cancer: Clinical, Pathogenetic, and Prognostic Features

This article comprehensively analyzes the clinical, pathogenetic, and prognostic features of the mutation spectrum observed in BRCA1 and BRCA2 genes in women diagnosed with ovarian cancer. The main aim of the study is to determine the role of BRCA1/2 gene mutations in the mechanisms of ovarian cancer, their impact on the clinical course of the disease, and their significance in predicting treatment outcomes. Studies show that pathogenic mutations in the BRCA1 and BRCA2 genes lead to disruption of DNA repair by homologous recombination, which results in loss of genome stability and an increased risk of malignant transformation. Clinically, ovarian cancer in BRCA-mutation carriers may be diagnosed at an earlier age, be associated with high-grade serous histological type, and be accompanied by familial cancer syndromes. From a prognostic perspective, patients with BRCA1/2 mutations are highly sensitive to platinum-based chemotherapy and PARP inhibitors, which allows for improved survival rates. In addition, the type and localization of the mutation may have different prognostic significance in terms of the risk of disease recurrence and long-term clinical outcomes. Consequently, molecular-genetic analysis of the BRCA1 and BRCA2 genes in ovarian cancer has important scientific and practical significance in terms of selecting personalized treatment strategies, early screening of individuals at risk, and optimizing the prognosis of the disease.