Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Faculty of Health Sciences, University of Macau, Macau, China.
J Med Genet. 2021 Aug;58(8):565-569. doi: 10.1136/jmedgenet-2020-106970. Epub 2020 May 28.
Pathogenic variation in and () 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 variation in the Chinese population remains elusive.
In this study, we used -targeted sequencing and bioinformatics approaches to screen for variants in 11 386 Chinese Han individuals, including 9331 females and 2055 males.
We identified 1209 variants, 34 of which were pathogenic, including 11 in and 23 in . These variants were distributed among 43 individuals (37 females and 6 males), with 13 carrying and 30 carrying variants. Based on these data, we determined a prevalence of 0.38%, or 1 carrier of a 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 pathogenic variation in the Chinese Han population. This information should be valuable for -related cancer prevention and treatment in the population.
和 () 中的致病变异是遗传性乳腺癌最常见的遗传易感性之一。变异携带者的鉴定在癌症的预防和治疗中起着重要作用。尽管中国有 14 亿人口，每年新增乳腺癌病例达 25 万，但中国人群中 变异的流行情况仍不清楚。
在这项研究中，我们使用靶向测序和生物信息学方法在 11386 名中国汉族个体中筛选 变异，包括 9331 名女性和 2055 名男性。
我们鉴定出 1209 个变异，其中 34 个是致病性的，包括 11 个在 中，23 个在 中。这些变异分布在 43 个人（37 名女性和 6 名男性）中，其中 13 人携带 ，30 人携带 变异。根据这些数据，我们确定了 0.38%的患病率，即每 265 名中国汉族个体中就有 1 名携带致病性 变异，在中国汉族人口 13 亿中则有 510 万携带者。
我们的研究提供了中国汉族人群中 致病性变异流行情况的基本知识。这些信息对于该人群中与 相关的癌症预防和治疗应该是有价值的。
