散发性乳腺癌中BRCA1基因突变的检测

目的 分析散发性乳腺癌患者BRCA1基因3个外显子的突变特性及突变位置。方法 采用PCR-SS-CP银染结合DNA直接测序方法，对34例乳腺癌患者BRCA1基因第2，11，20外显子进行突变检测。结果 2例患者BRCA1基因第11外显子的2430位点出现突变，由A变成G。结论 中国散发性乳腺癌中BRCA1突变率较低（6%），可能只与小部分散发性乳腺癌的发生相关；在普通人群中进行广泛的BRCA1突变筛查意义不大；在Ashkenazi犹太妇女中发现的两个突变热点185delAG和5382insC不是中国乳腺癌患者的突变热点，在中国人群中进行上述突变热点的筛查意义不大。

Test of the Mutation of BRCA1 Gene in Sporadic Breast Cancer

Objective To analyze the features and positions of mutation in three exons of BRCA1 gene in 34 sporadic breast cancer cases.Methods PCR Single Strand Conformational Polymorphism (SSCP)and DNA sequencing method were used to test the mutation of exons 2?11?20 of BRCA1.Result Cases had mutations on 2430 site in exon 11,Greplacing of A,but did not cause amino acid change.Conclusions The low mutation frequency (6%) of BRCA1 mutation is probably related to a small part of breast cancer,thus screening it is meaningless;185 delAG and 5382insC which are the high mutation sites in Ashkenazi Jewish women were not high in China,so it is not significant to screen them.