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.

abstractsObjective To investigate the prevalence of BRCA1/2 mutations in breast cancer patients of Han ethnic group in southcrn China,and to provide the genetic basis for early diagnosis and treatment of breast cancer.Methods 70 samples of breast cancer patients of Han 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 BRCA1/2 mutations of 70 breast cancer patients of Han ethnic group in southern China.