MEDICINA DE PRECISÃO

Uma realidade no Centro-Oeste de Minas Gerais

Abstract

The number of cancer cases in Brazil is on the rise, particularly in the South and Southeast regions. Among these cases, 5 to 15% have a hereditary component, increasing the risk of disease development. Given this scenario, it is crucial to define prevention, diagnosis, and monitoring strategies for these patients and their families. With this objective in mind, the "Hereditary Cancer Predisposition Assessment and Family Follow-up Program" was established in 2010 with the support of the Oncology Unit of Hospital São João de Deus, the Molecular Biology Laboratory of UFSJ, and the Associação de Combate ao Câncer do Centro-Oeste de Minas, all located in Divinópolis, Minas Gerais. The project was based on the development of a patient care flowchart to define monitoring strategies, utilizing a highly specialized team that includes genetic counseling, psychological support, and advanced techniques for molecular diagnosis. Since the inception of the project, approximately 350 families have met clinical criteria for hereditary syndromes, with Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and/or Li-Fraumeni Syndrome (n=250) being predominant. Among these families, 45% underwent genetic testing in the private sector, while 47% participated in the research project at UFSJ. Pathogenic mutations were identified in 28% of the tests. The identified pathogenic variants enable a more personalized approach to patient and family care, better-directing prevention, early diagnosis, and treatment strategies.