Residential College | false |
Status | 已發表Published |
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 Publication | Journal of Medical Genetics |
ISSN | 0022-2593 |
Volume | 58Issue: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. |
Keyword | Cancer: Breast Genetics Molecular Genetics Oncology Prevention |
DOI | 10.1136/jmedgenet-2020-106970 |
URL | View the original |
Indexed By | SCIE |
Language | 英語English |
WOS Research Area | Genetics & Heredity |
WOS Subject | Genetics & Heredity |
WOS ID | WOS:000680408300008 |
Publisher | BMJ PUBLISHING GROUPBRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND |
Scopus ID | 2-s2.0-85085651078 |
Fulltext Access | |
Citation statistics | |
Document Type | Journal article |
Collection | Faculty of Health Sciences |
Corresponding Author | Dong,Hui; Wang,San Ming |
Affiliation | 1.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 Affilication | Faculty 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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