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BRCA1  and  BRCA2  ( BRCA ) play essential roles in maintaining genome stability. Rapidly evolving human  BRCA  generates oncogenic variants causing high cancer risk.  BRCA  variation is ethnic-specific in reflecting adaptation and/or effects of genetic drift. Taiwanese population of 23.8 million is an admixture of multiple ethnic origins; Taiwan’s subtropical and tropical climate and geographically islandic location provide a unique natural environment. Therefore, Taiwanese population provides a unique model to study human  BRCA  variation. Through collecting, standardizing, annotating, and classifying publicly available  BRCA  variants derived from Taiwanese general population and the cancer cohort, we identified 335  BRCA  variants, of which 164 were from 1,517 non-cancer individuals, 126 from 2,665 cancer individuals, and 45 from both types of individuals. We compared the variant data with those from other ethnic populations such as mainland Chinese, Macau Chinese, Japanese, Korean, Indian, and non-Asians. We observed that the sharing rates with other Asian ethnic populations were correlated with its genetic relationship. Over 60% of the 335 Taiwanese  BRCA  variants were VUS, unclassified variants, or novel variants, reflecting the ethnic-specific features of Taiwanese  BRCA  variation. While it remains challenging to classify these variants, our structural and  in silico  analyses predicted their enrichment of  BRCA  deleterious variants. We further determined the 3.8% prevalence of  BRCA  pathogenic variants in the Taiwanese breast cancer cohort, and determined 0.53% prevalence of the  BRCA  pathogenic variants in Taiwanese general population, with the estimated 126,140  BRCA  pathogenic variant carriers. We identified  BRCA2  c.5164_5165delAG at  BRCA2  BRC6 motif as a potential founder mutation in Taiwanese population. Our study on  BRCA  variation in Taiwanese and other East Asian populations demonstrates that ethnic specificity is a common phenomenon for  BRCA  variation in East Asian population; the data generated from the study provide a reference for clinical applications in  BRCA -related cancer in Taiwanese population.

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort