TY - JOUR T1 - Ethnic-specific <em>BRCA1/2</em> 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 SP - 752 LP - 759 DO - 10.1136/jmedgenet-2020-107299 VL - 58 IS - 11 AU - Shanmuga Priya Bhaskaran AU - Teng Huang AU - Barani Kumar Rajendran AU - Maoni Guo AU - Jiangtao Luo AU - Zixin Qin AU - Bojin Zhao AU - Jiasheng Chian AU - Suicheng Li AU - San Ming Wang Y1 - 2021/11/01 UR - http://jmg.bmj.com/content/58/11/752.abstract N2 - 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. ER -