VARIANTS OF UNKNOWN SIGNIFICANCE IN BRCA1/BRCA2 GENES IN PATIENTS WITH BREAST CARCINOMA: ETHICAL IMPLICATIONS

Abstract

Breast cancer is one of the most prevalent and impactful neoplasms in global public health, with concerning trends in incidence and mortality among Brazilian women. The high incidence of breast cancer is attributed to a complex interaction of factors, including lifestyle, genetic and environmental influences. The identification of mutations in the BRCA1 and BRCA2 genes, important for DNA repair and genomic stability, plays a crucial role in understanding the predisposition to breast cancer. However, the presence of Variants of Unknown Significance (VUS) in these genes adds a layer of complexity to clinical interpretation, as the implications of these variants in cancer predisposition are not yet fully understood. This article presents an integrative review addressing the ethical implications of VUS in BRCA1/BRCA2 in breast cancer patients breast cancer in the Brazilian context. The methodology adopted was a literature review, selecting recent epidemiological studies and genetic analyses published in indexed scientific journals. The results highlight the growing concern regarding the identification of VUS in BRCA1/BRCA2 due to its association with hereditary breast cancer risk. The epidemiological analyses revealed significant implications of these variants in the Brazilian population, especially for current guidelines for genetic counseling and clinical management of patients. In addition, the ethical issues related to the interpretation and communication of these results were discussed, as well as the importance of patient education and multidisciplinary collaboration among health professionals.