Prevalence of <i>BRCA1</i>/<i>BRCA2</i> pathogenic variation in Chinese Han population.

Abstract

Pathogenic variation in <i>BRCA1</i> and <i>BRCA2</i> (<i>BRCA</i>) 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 <i>BRCA</i> variation in the Chinese population remains elusive. In this study, we used <i>BRCA</i>-targeted sequencing and bioinformatics approaches to screen for <i>BRCA</i> variants in 11 386 Chinese Han individuals, including 9331 females and 2055 males. We identified 1209 <i>BRCA</i> variants, 34 of which were pathogenic, including 11 in <i>BRCA1</i> and 23 in <i>BRCA2</i>. These variants were distributed among 43 individuals (37 females and 6 males), with 13 carrying <i>BRCA1</i> and 30 carrying <i>BRCA2</i> variants. Based on these data, we determined a prevalence of 0.38%, or 1 carrier of a <i>BRCA</i> 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 <i>BRCA</i> pathogenic variation in the Chinese Han population. This information should be valuable for <i>BRCA</i>-related cancer prevention and treatment in the population.