Objective To investigate the difference of cumulative cancer risk between man and woman hMLH1 or hMSH2 germline mutation carriers in hereditary nonpolyposis colorectal cancer (HNPCC) families.Methods To follow up 94 cases of hMLH1 or hMSH2 germline mutation carriers in 14 HNPCC families, cumulative risk of HNPCC related malignant cancers was estimated by Kaplan-Meier method and Cox proportional hazards model, and the difference between man and woman carriers was analyzed by log rank test.Results Cumulative risk of HNPCC related malignant cancers was higher increasingly when hMLH1 or hMSH2 germline mutation carriers became older in HNPCC families.Cumulative risk of HNPCC related malignant cancers and colorectal cancer in man carriers was higher than that in woman carriers(P ＜0.01 ).But their cumulative risks at 60 years old all reached the same level (both more than 90％ ).The difference of the cumulative gastric cancer risk was not statistically significant between man and woman mutation carriers.Conclusion Cumulative cancer risk is significantly correlated to the sex of hMLH1 or hMSH2 germline mutation carriers, especially cumulative colorectal cancer risk.Cancer onset age of mutation carriers is younger in China than that in the western countries.Cumulative risk of HNPCC related malignant cancers is not different between hMLH1 and hMSH2 germline mutation carriers in HNPCC families.%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.
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