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 (Contributed by Dr. San Ming Wang)

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. (https://jmg.bmj.com/content/early/2020/09/21/jmedgenet-2020-107299 )

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