MSH6在子宫内膜癌中的种系突变情况及特征荟萃分析

Meta-analysis on germline mutations and features of MSH6 in endometrial cancers

目的了解错配修复基因MSH6在子宫内膜癌人群中的种系突变频率及特征,提供真正的突变热点。方法收集1997-2008年国内外公开发表的有关文献进行评述,提取信息,并进行统计学分析。结果 MSH6在子宫内膜癌总人群中的突变频率为9.77%;置换突变和移码突变为主要突变类型,突变频率均为1.70%;外显子4为主要突变部位,突变频率为3.69%;携带MSH6突变的子宫内膜癌患者发病的平均年龄为(54.8±2.8)岁。结论错配修复基因MSH6在子宫内膜癌人群中的突变率较高,突变种类以置换突变和移码突变为主,外显子4是主要突变部位,携带突变者发病年龄较晚。

Objective To explore germline mutation frequencies and features of mismatch repaired gene MSH6 in persons with different kinds of endometrial cancer.Methods The papers about MSH6 mutations were reviewed and information was derived from studies published between 1997 and 2008,data were analyzed by statistical methods.Results MSH6 mutation in all endometrial cancer patients was 9.77%;Substitute mutation and frameshift mutation were the main types of the mutation,and each mutation frequency was 1.70%;exon 4 was the main mutable site,and the mutation frequency was 3.69%;the mean age at onset of MSH6 mutation carriers was（54.8±2.8） years old.Conclusions The mutation frequencies of MSH6 in persons with different kinds of endometrial cancer were higher;substitute mutation and frameshift mutation were the main types of the mutation,exon 4 was the main mutable site,the mean age of onset was higher.