28630 – BRCA2 MUTATION IN A FAMILY AND ASSOCIATED TUMORS: A CASE REPORT

Resumo

Introduction: Breast cancer is one of the leading causes of mortality among women worldwide. Genetic mutations play
a significant role in the development and progression of breast cancer, with BRCA1 and BRCA2 mutations being the most
common hereditary risk factors. Methodology: The search for articles was conducted across several academic databases,
including the United States National Library of Medicine (PubMed), Cochrane Library, Scopus, Web of Science, and the
Latin American and Caribbean Center on Health Sciences Information (Bireme), using the search terms “BRCA2 mutation” and “breast cancer.” The inclusion criterion for selecting articles was: original studies investigating the association
between BRCA2 mutation and cancers. Articles published in English or Portuguese that directly addressed the topic were
selected. Conclusion: In conclusion, BRCA2 mutation is associated with an increased risk of various types of cancers,
including breast cancer. Early identification of the mutation can aid in prevention and treatment, contributing to a more
effective and personalized approach. This case report highlights the clinical progression of a family carrying the BRCA2
mutation with multiple tumors affecting different organs. The importance of genetic testing, meticulous surveillance, and
personalized treatment is emphasized, as these can have a significant impact on early detection, disease management,
and prognostic outcomes for patients with hereditary breast cancer. The presented case warrants further research and
underscores the need for multidisciplinary approaches in caring for high-risk individuals.