Genetic Basis And Clinical Perspectives Of Breast Cancer

Abstract

Breast cancer, a widespread malignancy affecting women, originates in the epithelial tissues of the breast. This study explores the significance of BRCA1 and BRCA2 genes in breast cancer etiology. Approximately 5% to 10% of breast cancer cases are hereditary, resulting from germline mutations in these genes. BRCA mutations increase the risk of breast cancer, with carriers facing a likelihood of 45% to 75% of developing the disease. Additionally, the aggressive phenotype of BRCA-related breast cancers is marked by features like triple-negative attributes and higher grades. In India, the incidence of breast cancer is escalating, projected to reach 250,000 cases by 2030. Alarming mortality rates underscore the necessity for effective interventions. The five-stage classification of breast cancer—from non-invasive disease in Stage 0 to metastatic spread in Stage IV—provides a framework for diagnosis and treatment. Earlystage breast cancers are manageable with surgery and hormone therapy. In locally advanced breast cancer (Stage III), a combination of
chemotherapy and surgery is employed after metastatic spread to lymph nodes and other sites. Stage IV breast cancer, representing the most advanced phase, presents significant treatment challenges. Current therapies encompass systemic drugs, radiation therapy, chemotherapy, and surgery, although achieving a definitive cure remains elusive. This study emphasizes the crucial role of BRCA mutations in breast cancer susceptibility, stressing the importance of genetic screening and targeted interventions. Furthermore, it explores the complexities of disease staging, guiding treatment strategies based on disease extent. Despite considerable progress, continuous research efforts are essential to enhancing diagnostic precision and developing more effective treatments for this intricate and multifaceted disease (Łukasiewicz et al., 2021; Smolarz et al., 2022).