错配修复基因突变检测对遗传性非息肉病性结直肠癌患病风险的预测

目的 探讨错配修复(MMR)基因种系突变检测在遗传性非息肉病性结直肠癌(HNPCC)家系成员患癌风险预测中的作用.方法 对43个携带致病性突变的HNPCC家系的316名家庭成员的发病情况进行详细调查,并对结果进行统计学分析.结果 ①突变状态明确的HNPCC家系年龄大于20岁的成员共263例,其中突变携带者144例,非携带者119例;HNPCC相关恶性肿瘤的发生率分别为59.03%(85/144)和2.52%(3/119),二者差异有统计学意义(X2=93.44,P＜0.01).②在144例年龄大于20岁的突变携带者中,男、女HNPCC相关恶性肿瘤发生率分别为72.00%(54/75)和44.93%(31/69),二者差异有统计学意义(χ~2=10.89,P＜0.01).③随着年龄的增加,突变携带者发生HNPCC相关肿瘤的累计风险度逐渐增加.结论 在HNPCC家系中,MMR基因种系突变携带者为发生HNPCC相关肿瘤的高危人群,MMR基因种系突变的检测能很好地预测HNPCC相关肿瘤的发生危险.

Cancer risk prediction for mismatch repair germline mutation in Chinese hereditary non-polyposis colorectal cancer pedigree

Objective To investigate the cancer risk prediction by means of mismatch repair (MMR) germline mutation test in Chinese hereditary non-polyposis colorectal cancer (HNPCC) pedigree.Methods A detail pedigree analysis about the onset of cancer was carried out in 316 subjects from 43 Chinese HNPCC families,and the results were statistically analyzed.Results ①Two hundred and sixty-three subjects aged above 20 years were identified as mutation.Among whom,144 were mutation carriers and 119 were non-mutation carriers.The prevalence of tumors referred to HNPCC was 9.03%(85/144) in mutation carries and 2.52% (3/119) in non-mutation carriers with significant difference (P＜0.01).②Nevertheless,male subjects had a higher colorectal cancer risk than female subjects in 144 mutation carriers aged above 20 years with significant difference [72.00%(54/75) vs.44.93%(31/69),χ~2=10.89,P＜0.01].③The risk for HNPCC associated tumor was increasing with aging.Conclusions In the HNPCC families,the mutation carriers are the high risk members for cancers related to HNPCC,which can be predicted by means of MMR germline mutation test.