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Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
  1. Hui Dong1,
  2. Khyati Chandratre2,
  3. Yue Qin3,
  4. Jing Zhang3,
  5. Xiaoqing Tian3,
  6. Ce Rong4,
  7. Ning Wang4,
  8. Maoni Guo2,
  9. Guoping Zhao5,
  10. San Ming Wang2
  1. 1 Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
  2. 2 Faculty of Health Sciences, University of Macau, Macau, China
  3. 3 Nanjing Shenyou Institute of Genome Research, Nanjing, China
  4. 4 iKang Guobin Healthcare Group Co., Ltd, Beijing, China
  5. 5 Institute of Plant Physiology and Ecology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China
  1. Correspondence to Professor San Ming Wang, University of Macau, Macau, China; sanmingwang{at}; Professor Hui Dong; hui.dong{at}


Background Pathogenic variation in BRCA1 and BRCA2 (BRCA) is one of the most frequent genetic predispositions for hereditary breast cancer. The identification of the variant carriers plays an important role in prevention and treatment of cancer. Despite a population size of 1.4 billion and a quarter million annual new breast cancer cases, knowledge regarding the prevalence of BRCA variation in the Chinese population remains elusive.

Methods In this study, we used BRCA-targeted sequencing and bioinformatics approaches to screen for BRCA variants in 11 386 Chinese Han individuals, including 9331 females and 2055 males.

Results We identified 1209 BRCA variants, 34 of which were pathogenic, including 11 in BRCA1 and 23 in BRCA2. These variants were distributed among 43 individuals (37 females and 6 males), with 13 carrying BRCA1 and 30 carrying BRCA2 variants. Based on these data, we determined a prevalence of 0.38%, or 1 carrier of a BRCA pathogenic variant out of every 265 Chinese Han individuals, and 5.1 million carriers among the Chinese Han population of 1.3 billion.

Conclusion Our study provides basic knowledge about the prevalence of BRCA pathogenic variation in the Chinese Han population. This information should be valuable for BRCA-related cancer prevention and treatment in the population.

  • cancer: breast
  • genetics
  • molecular genetics
  • oncology
  • prevention

Data availability statement

All data generated from the study are available as supplementary tables 1-5.

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Data availability statement

All data generated from the study are available as supplementary tables 1-5.

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  • Correction notice This article has been corrected since it was published Online First. The corrections address a misrepresentation of the literature. In the 'Discussion' section, data and text about references 7, 8, 9 and 10 have been corrected; the reference list and in-text citations have been amended as well.

  • Contributors HD: experimental design, data collection, annotation, analysis; KC, YQ: annotation, analysis; JZ, XT, CR, NW: sample collection; MG: statistics data analysis; GZ: experimental design; SMW: experimental design, data analysis and interpretation, manuscript writing.

  • Funding The study was supported by grants from the University of Macau (SRG2017-00097-FHS, MYRG2019-00018-FHS), a start-up fund from the Faculty of Health Sciences, University of Macau, and a grant from the Macau Science and Technology Development Fund (085/2017/A2) (SMW), and the Shanghai General Hospital Start-up Fund ( (HD).

  • Competing interests None declared.

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