RT Journal Article SR Electronic T1 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 JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 752 OP 759 DO 10.1136/jmedgenet-2020-107299 VO 58 IS 11 A1 Shanmuga Priya Bhaskaran A1 Teng Huang A1 Barani Kumar Rajendran A1 Maoni Guo A1 Jiangtao Luo A1 Zixin Qin A1 Bojin Zhao A1 Jiasheng Chian A1 Suicheng Li A1 San Ming Wang YR 2021 UL http://jmg.bmj.com/content/58/11/752.abstract AB Background Germline mutation in BRCA1 and BRCA2 (BRCA) is genetic predisposition for breast and ovarian cancer. Identification of mutation carriers is a critical step to prevent and treat the cancer in the mutation carriers. Human BRCA variation has been well determined as ethnic-specific by studies in Ashkenazi Jewish, Polish and Icelandic populations in the 1990s. However, sufficient evidence is lacking to determine if ethnic-specific BRCA variation is also present in Asia population, which is the largest and the most diversified in modern humans. Our current study aims to investigate ethnic-specific BRCA variation in Asian population.Methods We performed a comprehensive data mining to collect BRCA variation data in Indian, Chinese, Korean and Japanese populations derived from over 78 000 cancer and 40 000 non-cancer cases. We standardised all BRCA variation data following the international standard. We made a systematic comparison between the datasets including variant composition, variation spectrum, variant type, clinical class, founder mutation and high-frequent variants.Results Our analysis showed that over half of the Asian BRCA variants were Asian-specific, and significant differences were present between the four Asia populations in each category analysed.Conclusion Data from our study reveal that ethnic-specific BRCA variation is commonly present in Asia population as existing in non-Asian populations. Our study indicates that ethnicity should be an important factor to consider in prevention and treatment of BRCA mutation-related cancer in the Asia population. We recommend that the current BRCA variation databases should include ethnic variation information in order to function as true global BRCA references.All data relevant to the study are included in the article or uploaded as supplementary information.