Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations

BRCA mutation is genetic predisposition for breast and ovarian cancer. BRCA mutation is well determined as ethnic-specific by studies in Ashkenazi Jewish, Polish and Icelandic populations. However, sufficient evidence is lack to determine if ethnic-specific BRCA mutation is also present in the largest and the most diversified Asia population. We performed a comprehensive data mining to collect BRCA mutation data in Indian, Chinese, Korean, and Japanese populations from over 78,000 cancer and 40,000 non-cancer cases. Our comparative analysis showed that ethnic-specific BRCA mutation is widely present in the Asia population. Our study indicates that ethnic-specific mutation is an important factor in prevention and treatment of BRCA mutation-related cancer in the Asia population. (By Dr. San Ming Wang, https://jmg.bmj.com/content/early/2020/09/21/jmedgenet-2020-107299 )

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