PT - JOURNAL ARTICLE AU - Zixin Qin AU - Cheong Nang Kuok AU - Hui Dong AU - Luhan Jiang AU - Li Zhang AU - Maoni Guo AU - Hio Kuan Leong AU - Lei Wang AU - Grace Meng AU - San Ming Wang TI - Can population <em>BRCA</em> screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population AID - 10.1136/jmedgenet-2020-107181 DP - 2021 Sep 01 TA - Journal of Medical Genetics PG - 587--591 VI - 58 IP - 9 4099 - http://jmg.bmj.com/content/58/9/587.short 4100 - http://jmg.bmj.com/content/58/9/587.full SO - J Med Genet2021 Sep 01; 58 AB - 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.