Genes BRCA1/BRCA2 na susceptibilidade ao câncer de mana hereditário e importância prognóstica da detenção de mutações

Abstract

The breast cancer is the most frequent neoplasm in Brazilian women. The presence of familiar breast and ovary cancer antecedents is observed only in 5 to 10 percent of all breast cancer cases, which appears in early age frequently bilaterally. Though the recent identification of genetic mutations associated to familiar aggregation of these tumors, mainly in BRCA1, 2 and 3 genes, the knowledge about interaction of genetic and environmental factors in these families remain relatively obscure. The availability of genetic tests for mutations in BRCA genes has lead the cancer geneticists to give information about genetic risks and also to research many women with history of personal or familiar breast and or ovary cancer, aiming to inform about preventive measures. The main preventive measures are the self-exam, mammography, chemoprevention and prophylactic surgery (mastectomy and oophorectomy). These strategies are based on potential benefits, but its effectiveness is still being debated.