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目的探讨性别对HNPCC家系中hMLH1和hMSH2种系突变携带者患癌累积风险度的影响。方法对14个HNPCC家系的94例hMLH1或hMSH2种系突变携带者,采用Kaplan-Meier法、Cox风险比例模型和对数秩检验等方法估计种系突变携带者分别在30岁、40岁、50岁、60岁等时的患癌累积风险度及分析不同性别间的差异。结果 hMLH1或hMSH2种系突变携带者发生各种HNPCC相关恶性肿瘤的累积风险度随年龄的增大明显增高,男性携带者发生HNPCC相关肿瘤、结直肠癌等的风险度明显高于女性(P<0.01),但在60岁时两者基本趋于一致,均达90%以上;男性与女性携带者发生胃癌的累积风险度差异无显著性(P>0.05)。hMLH1与hMSH2种系突变携带者患癌风险度的差异无统计学意义。结论性别与HNPCC家系中hMLH1或hMSH2种系突变携带者患癌(尤其是结直肠癌)风险度密切相关,但中国人种系突变携带者患癌年龄较西方人提前;hMLH1与hMSH2种系突变携带者发生HNPCC相关恶性肿瘤的累积风险度无明显差异。
Objective To investigate the effect of sex on the cumulative risk of cancer in carriers of hMLH1 and hMSH2 germline mutations in HNPCC pedigrees. Methods 94 carriers of hMLH1 or hMSH2 mutations in 14 HNPCC pedigrees were estimated by Kaplan-Meier method, Cox proportional hazards model and log-rank test. The carriers of mutation were estimated to be 30 years old, 40 years old, 50 years old The cumulative risk of cancer at 60 and 60 years of age and the analysis of differences between different genders. Results The cumulative risk of various HNPCC related malignancies in carriers of hMLH1 or hMSH2 germline mutation increased significantly with age. The risk of HNPCC-related tumors and colorectal cancer in male carriers was significantly higher than that of female carriers (P < 0.01). However, at 60 years old, the two basically reached the same level, reaching over 90%. There was no significant difference in the cumulative risk of gastric cancer among men and women (P> 0.05). There was no significant difference in the risk of cancer between carriers of hMLH1 and hMSH2 germline mutations. Conclusions The genotype of HMLH1 or hMSH2 is closely related to the risk of cancer (especially colorectal cancer) in carriers of HMLH1 or hMSH2 germline mutation in HNPCC pedigrees. However, There was no significant difference in the cumulative risk of carriers of HNPCC-associated malignancies.