RESUMO
BACKGROUND: Pathogenic mutation in BRCA genes causes high cancer risk. Identifying the mutation carriers plays key roles in preventing BRCA mutation-related cancer. Population screening has demonstrated its power for comprehensive identification of the mutation carriers. However, it is only recommended for the Ashkenazi Jewish population with high prevalence of three founder mutations, but not for non-Ashkenazi Jewish populations as the cost-effectiveness could be too low due to their lower mutation prevalence and lack of founder mutation. Population screening would not benefit the majority of the human population for BRCA mutation-related cancer prevention. METHODS: We used population BRCA screening in 6000 residents, 1% of the Macau population, an ethnic Chinese population with unique genetic, linguistic and cultural features, and its BRCA mutation has not been analysed before. RESULTS: We called BRCA variants, identified 18 carriers with 14 pathogenic mutations and determined the prevalence of 0.29% in the population (95% CI 0.15% to 0.42%). We compared the testing cost between the Ashkenazi Jewish population, the Sephardi Jewish population and the Macau population, and observed only a few fold differences. CONCLUSION: Our study shows that testing cost is not the most important factor in considering population BRCA screening, at least for the populations in the developed countries/regions, regardless of the status of mutation prevalence and founder mutation.
Assuntos
Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Mutação , Neoplasias/epidemiologia , Neoplasias/genética , Adulto , Alelos , Análise Custo-Benefício , Feminino , Testes Genéticos/métodos , Mutação em Linhagem Germinativa , Humanos , Judeus/genética , Macau/epidemiologia , Macau/etnologia , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Neoplasias/diagnóstico , Vigilância da População , Prevalência , Análise de Sequência de DNA , Adulto JovemRESUMO
About 10-15% of breast cancer cases are family related, classified as familial breast cancer. The disease was first reported in 1866 and determined to be an autosomal dominant genetic disease in 1971. Germline mutations in BRCA1 were discovered and deemed as the first genetic predisposition for the disease in 1994. By now, genetic predispositions for about 40% of familial breast cancer families have been identified. New molecular genetic approaches currently under development should accelerate the process to identify the full spectrum of genetic predispositions for the disease, thereby enabling a better understanding of the genetic basis of the disease and therein providing benefit to high-risk patients.
