RT Journal Article
SR Electronic
T1 Prevalence of <em>BRCA1</em>/<em>BRCA2</em> pathogenic variation in Chinese Han population
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 565
OP 569
DO 10.1136/jmedgenet-2020-106970
VO 58
IS 8
A1 Hui Dong
A1 Khyati Chandratre
A1 Yue Qin
A1 Jing Zhang
A1 Xiaoqing Tian
A1 Ce Rong
A1 Ning Wang
A1 Maoni Guo
A1 Guoping Zhao
A1 San Ming Wang
YR 2021
UL http://jmg.bmj.com/content/58/8/565.abstract
AB 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.All data generated from the study are available as supplementary tables 1-5.