Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population (Contributed by Dr. San Ming Wang)

Mutation in BRCA1 and BRCA2 genes increases the risk of breast and ovarian cancer. Identifying the mutation is a key to prevent and treat the mutation-caused cancer. China has the largest population of 1.4 billion in the world. By testing BRCA1/2 genes in 11,386 non-cancer Chinese Han individuals, we determined there is one BRCA mutation carrier in every 265 Han Chinese individuals in the tested individuals, and we estimated there are 5.1-million BRCA mutation carriers in the 1.3-billion Chinese Han population. Our study provides a fundamental information to prevent and treat the BRCA mutation-caused cancer in the Chinese Han population. (https://jmg.bmj.com/content/early/2020/05/28/jmedgenet-2020-106970 )

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