MSH6在大肠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 Colorectal Cancers

作　　者：翟景花[1] 韩冰[1] 王帆[1] 赵亚双[1] 

机构地区：[1]哈尔滨医科大学公共卫生学院流行病学教研室,哈尔滨150086

出　　处：《循证医学》2007年第4期220-223,共4页The Journal of Evidence-Based Medicine

基　　金：国家自然科学基金资助项目(30371247);哈尔滨市留学回国人员基金资助项目(2005AFLXJ017)

摘　　要：目的了解错配修复基因MSH6在不同形式大肠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1997-2005年国内外公开发表的有关文献,提取信息,数据用统计学方法处理。结果MSH6在大肠癌总人群、HNPCC、可疑HNPCC和散发大肠癌人群中的突变频率分别为4.39%、4.23%、5.61%和1.10%;男性、女性大肠癌患者MSH6种系突变频率4.49%、7.00%。碱基插入、缺失、置换分别占22.8%、22.8%、54.5%;女性携带MSH6突变的大肠癌患者平均发病年龄为49.1岁,男性为46.3岁。结论错配修复基因MSH6在不同形式大肠癌人群中的突变率较低;突变种类以碱基置换较多;大肠癌女性发病年龄较男性偏晚。Objective To explore germline mutation frequencies and features of mismatch repaired gene MSH6 in persons with different kinds of colorectal cancer. Methods The papers about MSH6 mutations were reviewed, information was derived from studies published between 1997 and 2005, and data were analyzed by statistical methods. Results MSH6 mutation frequencies in all colorectal cancer patients, HNPCC, suspected HNPCC and sporadic patients were 4.39%, 4.23%, 5.61% and 1.10%; MSH6 germline mutation frequencies in male and female colorectal cancer were 4.49% and 7.00%, respectively. The percentages of mutations in insertion, deletion and substitution were 22.8%, 22.8% and 54.5%, respectively; the mean age at onset of female MSH6 mutation carriers was 49.1 years old, and male carriers was 46.3. Conclusions The mutation frequencies of MSH6 in persons with different kinds of colorectal cancer were lower; the mutations of substitution appeared more frequent than insertion and deletion; the mean age of onset was higher in female MSH6 mutation carriers than in male carriers.

关 键 词：结直肠肿瘤 MSH6 种系突变 

分 类 号：R735.34[医药卫生—肿瘤]