Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population

BRCA mutation increases risk of breast and ovarian cancer. Identifying the mutation carriers is the first step to prevent the mutation-caused cancer. Population screening can reach comprehensive identification of the mutation carriers to prevent the cancer. However, this approach is considered only suitable for Ashkenazi Jewish population with high-frequent founder mutations, but not suitable for other populations with lower mutation frequency due to higher testing cost. We used population screening in 6,000 Macau individuals, and successfully identified the BRCA mutation carriers at reasonable cost. Our study shows that that cost can only be one of the many factors and population screening can be applied in non-Jewish populations. (By Dr. San Ming Wang, https://jmg.bmj.com/content/early/2020/08/17/jmedgenet-2020-107181 )

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