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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 understand the frequency and characteristics of germline mutations in the mismatch repair gene MSH6 in endometrial cancer patients and provide a real mutation hot spot. Methods A review of the literature published at home and abroad from 1997 to 2008 was collected and the information was extracted and analyzed statistically. Results The mutation frequency of MSH6 in the total population of endometrial carcinoma was 9.77%. The mutation frequency and frameshift mutation were the main types of mutation, the frequency of mutation was 1.70%. The mutation frequency of MSH6 was 3.69%. The mean age at onset of MSH6-bearing endometrial cancer was (54.8 ± 2.8) years. Conclusion Mismatch repair gene MSH6 has a high mutation rate in the population of endometrial cancer. The mutation type is dominated by the substitution mutation and the frameshift mutation. Exon 4 is the main mutation site, and the mutation carriers are late.