186例乳腺癌患者BRCA1基因突变检测  

Mutation BRCA1 gene in 186 breast cancer patients

作　　者：赖春宁[1] 江泽飞 宋三泰 王建安[1] 黎燕[1] 沈倍奋[1] 

机构地区：[1]军事医学科学院基础医学研究所,北京100850 [2]解放军第三○七医院肿瘤三科

出　　处：《中华肿瘤杂志》2001年第6期483-485,共3页Chinese Journal of Oncology

摘　　要：目的　分析 186例散发乳腺癌患者肿瘤易感基因BRCA1(breastandorariancancersusceptibilitygene ,BRCA1)突变情况及突变位置。方法　应用PCR SSCP(single strandedcanformationalpolymorphs ,SSCP)和直接测序方法定位 ,检测乳腺癌部分患者部分BRCA1基因外显子和内含子与外显子之间接拼区突变及突变位置。结果　 186例患者中 ,有 13例发生BRCA1基因突变 ,突变例数占总例数的 7 0 % ,其中 8例突变位置在内含子与外显子的拼接区 ,5例突变位置在外显子上。结论筛查BRCA1基因突变对于乳腺癌患病风险评估、发病检测、早期诊断及基因治疗具有重要的临床意义。Objective To analysie the mutation of BRCA1 gene in 186 breast cancer patients. Methods Polymerase chain reaction single stranded conformational polymorphism (PCR SSCP) and sequencial were used in this analysis.Results 13/186 of patients showed mutation which comprised 7% of the total number of patients. In 8 patients, the mutation was observed in the intron splicing region and in 5 patients, the mutation was on the exon.Conclusion Mutation analysis of BRCA1 gene is helpful in the determination of developmental potential, early daignosis and gene therapy for breast cancer. [

关 键 词：乳腺癌 肿瘤易感基因 BRCA1基因 基因突变 聚合酶链反应 

分 类 号：R737.9[医药卫生—肿瘤]