Can population <i>BRCA</i> screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population.

Abstract

Pathogenic mutation in <i>BRCA</i> genes causes high cancer risk. Identifying the mutation carriers plays key roles in preventing <i>BRCA</i> 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 <i>BRCA</i> mutation-related cancer prevention. We used population <i>BRCA</i> screening in 6000 residents, 1% of the Macau population, an ethnic Chinese population with unique genetic, linguistic and cultural features, and its <i>BRCA</i> mutation has not been analysed before. We called <i>BRCA</i> 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. Our study shows that testing cost is not the most important factor in considering population <i>BRCA</i> screening, at least for the populations in the developed countries/regions, regardless of the status of mutation prevalence and founder mutation.