Hereditariedade do câncer de mama: uma revisão bibliográfica

Abstract

This undergraduate final project deals with the heredity of breast cancer in Brazil by means of an integrative literature review, mainly addressing the role of the BRCA1 and BRCA2 genes. Hereditary breast cancer is a condition where there is a genetic predisposition to developing the disease, and the BRCA1 and BRCA2 genes play a fundamental role in this context. The present review highlights that mutations in these genes are associated with a higher risk of hereditary breast cancer. These mutations, when present in germ cells, can also be passed on from generation to generation. In Brazil, the prevalence of these mutations varies between different populations and regions of the country. The analysis of breast cancer heredity has been crucial in identifying individuals at risk and implementing preventive measures, such as frequent monitoring and even prophylactic surgical interventions when necessary. The BRCA1 and BRCA2 genes play an essential role in maintaining DNA integrity and repairing genetic damage. Mutations in these targets compromise DNA repair capacity during the cell cycle, increasing susceptibility to cancer. This hereditary predisposition can result in diagnoses at a younger age and a greater tendency to develop bilateral tumors. Early detection and risk assessment of hereditary breast cancer are fundamental for effective prevention and treatment strategies. Genetic testing for BRCA1 and BRCA2 mutations has become more accessible, allowing the identification of individuals at risk and the development of personalized management plans. However, it is important to highlight the need for proper genetic counseling to interpret test results and guide patients through the available options. This study emphasizes the importance of heredity in breast cancer in Brazil, with a special focus on the BRCA1 and BRCA2 genes. Understanding these genetic factors and developing detection and prevention strategies are crucial to reducing the impact of this disease on the Brazilian population. This study was carried out by searching SciELO and Google Scholar indexed databases for articles published in Brazil between 2007 and 2023.