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

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.