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Original research
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
  1. Shanmuga Priya Bhaskaran1,
  2. Teng Huang1,
  3. Barani Kumar Rajendran1,
  4. Maoni Guo1,
  5. Jiangtao Luo2,
  6. Zixin Qin1,
  7. Bojin Zhao1,
  8. Jiasheng Chian1,
  9. Suicheng Li1,
  10. San Ming Wang1
  1. 1Faculty of Health Sciences, University of Macau, Taipa, Macau, China
  2. 2Healthcare Analytics Institute, Eastern Virginia Medical School, Norfolk, VA, USA
  1. Correspondence to Professor San Ming Wang, Faculty of Health Sciences, University of Macau, Taipa, China; sanmingwang{at}


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.

  • DNA repair
  • genetic heterogeneity
  • genetic predisposition to disease
  • genetics
  • medical
  • genetic variation

Statistics from


  • Contributors Contributions SPB, HT, ZQ, BZ, JC, SL: data collection, annotation, analysis; BKR, JL, GM: statistics data analysis; SMW: design, data analysis and interpretation, manuscript writing.

  • Funding This study was funded by a Macau Science and Technology Development - Ministry of Science and Technology of People’s Republic of China fund (0077/2019/AMJ), a Macau Science and Technology Development Fund (085/2017/A2), grants from the University of Macau (SRG2017-00097-FHS, MYRG2019-00018-FHS), Faculty of Health Sciences, University of Macau (Startup fund, FHSIG/SW/0007/2020P) (SMW).

  • Map disclaimer The depiction of boundaries on the map(s) in this article does not imply the expression of any opinion whatsoever on the part of BMJ (or any member of its group) concerning the legal status of any country, territory, jurisdiction or area or of its authorities. The map(s) are provided without any warranty of any kind, either express or implied.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.

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