Trabalho de Conclusão de Curso de Especialização
Genes BRCA1/BRCA2 na susceptibilidade ao câncer de mana hereditário e importância prognóstica da detenção de mutações
Fecha
2005Autor
Vallandro, Eleonora Lang
Institución
Resumen
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.