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Prevalence of BRCA1 / BRCA2 pathogenic variation in Chinese Han population
Dong,Hui1; Chandratre,Khyati2; Qin,Yue3; Zhang,Jing3; Tian,Xiaoqing3; Rong,Ce4; Wang,Ning4; Guo,Maoni2; Zhao,Guoping5; Wang,San Ming2
2021-08-01
Source PublicationJournal of Medical Genetics
ISSN0022-2593
Volume58Issue:8Pages:565-569
Abstract

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.

KeywordCancer: Breast Genetics Molecular Genetics Oncology Prevention
DOI10.1136/jmedgenet-2020-106970
URLView the original
Indexed BySCIE
Language英語English
WOS Research AreaGenetics & Heredity
WOS SubjectGenetics & Heredity
WOS IDWOS:000680408300008
PublisherBMJ PUBLISHING GROUPBRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND
Scopus ID2-s2.0-85085651078
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Document TypeJournal article
CollectionFaculty of Health Sciences
Corresponding AuthorDong,Hui; Wang,San Ming
Affiliation1.Shanghai General Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai,China
2.Faculty of Health Sciences,University of Macau,Macao
3.Nanjing Shenyou Institute of Genome Research,Nanjing,China
4.IKang Guobin Healthcare Group Co.,Ltd,Beijing,China
5.Institute of Plant Physiology and Ecology,Shanghai Institutes for Biological Sciences,Chinese Academy of Sciences,Shanghai,China
Corresponding Author AffilicationFaculty of Health Sciences
Recommended Citation
GB/T 7714
Dong,Hui,Chandratre,Khyati,Qin,Yue,et al. Prevalence of BRCA1 / BRCA2 pathogenic variation in Chinese Han population[J]. Journal of Medical Genetics, 2021, 58(8), 565-569.
APA Dong,Hui., Chandratre,Khyati., Qin,Yue., Zhang,Jing., Tian,Xiaoqing., Rong,Ce., Wang,Ning., Guo,Maoni., Zhao,Guoping., & Wang,San Ming (2021). Prevalence of BRCA1 / BRCA2 pathogenic variation in Chinese Han population. Journal of Medical Genetics, 58(8), 565-569.
MLA Dong,Hui,et al."Prevalence of BRCA1 / BRCA2 pathogenic variation in Chinese Han population".Journal of Medical Genetics 58.8(2021):565-569.
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