乳腺癌
人口
癌症
遗传变异
遗传学
医学
生物
肿瘤科
人口学
基因
环境卫生
社会学
作者
Hongyan Dong,Khyati Chandratre,Ying Qin,Jing Zhang,Xiaodong Tian,Ce Rong,Ning Wang,Maoni Guo,Guoping Zhao,San Ming Wang
标识
DOI:10.1136/jmedgenet-2020-106970
摘要
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.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.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.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.
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