A INFLUÊNCIA DOS MARCADORES GENÉTICOS BRCA1 E BRCA2 NO RASTREAMENTO E PREVENÇÃO DO CÂNCER DE MAMA E OVÁRIO EM MULHERES DE ALTO RISCO

Abstract

Breast cancer and ovarian cancer are major causes of female mortality worldwide, and the presence of mutations in the BRCA1 and BRCA2 genes is one of the main hereditary risk factors for the development of these neoplasms. In this context, understanding the influence of genetic markers on screening and prevention in high-risk women is essential for clinical practice and the formulation of health policies. This study aimed to analyze the relevance of the BRCA1 and BRCA2 genes in the screening and prevention of breast and ovarian cancer in women with genetic predisposition. It is a bibliographic research carried out through a review of scientific articles published in databases such as PubMed, SciELO, and LILACS, prioritizing studies from the last ten years. The results demonstrated that the early identification of BRCA gene mutations enables the adoption of individualized preventive strategies, such as intensified screening with mammography and magnetic resonance imaging, in addition to prophylactic measures such as risk-reducing mastectomy and oophorectomy. The discussion highlights that, although prophylactic surgeries have a significant impact on reducing cancer incidence, they require a multidisciplinary approach, considering ethical, psychological, and social aspects in the decision-making process. Additionally, genetic testing makes it possible to identify at-risk relatives, expanding the reach of preventive strategies. It is concluded that the BRCA1 and BRCA2 genetic markers play a decisive role in screening and preventing breast and ovarian cancer in high-risk women, and that the integration of molecular diagnosis, genetic counseling, and preventive measures is fundamental to reducing mortality and improving the quality of life of these patients.