华南汉族乳腺癌患者BRCA基因突变携带情况调查  

Detection of BRCA mutations for breast cancer in southern China

作　　者：李章[1] 胡泓 许楠[1] 严文辉[1] 周冬仙[1] 杨玲 刘红[1] 

机构地区：[1]天津医科大学肿瘤医院乳腺外科,国家肿瘤临床医学研究中心,天津市"肿瘤防治"重点实验室,300060 [2]深圳市人民医院 [3]天津华大基因科技有限公司

出　　处：《中华普通外科杂志》2014年第5期373-377,共5页Chinese Journal of General Surgery

摘　　要：目的研究中国华南汉族乳腺癌患者群体中BRCA1／2基因突变的携带情况，为中国遗传性乳腺癌的研究及早期防治提供依据。方法采用目标区域序列捕获结合高通量测序技术，对70例来自华南地区汉族乳腺癌患者和70例健康人群对照进行BRCA1、BRCA2基因全部外显子区域的突变检测，分析在乳腺癌患者中BRCA基因有害突变携带情况。结果70例乳腺癌患者中总共检出5例BRCA基因有害突变，其中4个为新突变。在健康对照组未检出BRCA基因的有害突变。研究中还发现3个出现频率较低的突变。结论70例中国华南地区汉族乳腺癌患者中存在4个新的有害BRCA基因突变，以及一些意义未明的突变，本研究丰富了中国人BRCA基因突变频谱。Objective To investigate the prevalence of BRCA1/2 mutations in breast cancer patients of HaM ethnic group in southern China, and to provide the genetic basis for early diagnosis and treatment of breast cancer. Methods 70 samples of breast cancer patients of HaM ethnic group in southern China and 70 normal control samples were tested. The whole coding exons of BRCA1 and BRCA2 genes were analyzed using hybridization based enrichment and next-generation sequencing （NGS）. According to the results of NGS, we detected pathogenic mutations of BRCA genes. Results In 70 breast cancer patients, a total of 5 deleterious mutations were identified, 4 of these were novel mutations, and no pathogenic variation was found in normal control group. Furthermore, we detected 3 low frequency mutations which are likely to relate to cancer susceptibility. Conclusions 4 novel deleterious mutations were reported, as well as some variants of unknown clinical significance for the prevalence of BRCAl/2 mutations of 70 breast cancer patients of HaM ethnic group in southern China.

关 键 词：乳腺肿瘤 序列分析 DNA 基因 BRCA1 基因 BRCA2 

分 类 号：R737.9[医药卫生—肿瘤]