Clinical and genetic features of International Collaborative Group-hereditary nonpolyposis colorectal cancer families and suspected hereditary nonpolyposis colorectal cancer families

袁瑛; 叶俊; 郑树

首页> 中文期刊> 《中华医学杂志（英文版）》 >Clinical and genetic features of International Collaborative Group-hereditary nonpolyposis colorectal cancer families and suspected hereditary nonpolyposis colorectal cancer families

Clinical and genetic features of International Collaborative Group-hereditary nonpolyposis colorectal cancer families and suspected hereditary nonpolyposis colorectal cancer families

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Background Hereditary nonpolyposis colorectal cancer (HNPPC) is one of the most common genetic syndrome related with mutation of human mismatch repair genes. This study was to evaluate the clinical significance of suspected hereditary nonpolyposis colorectal cancer (sHNPCC) criteria I and the clinical and genetic features of International Collaborative Group-HNPCC (ICG-HNPCC) and sHNPCC families.Methods Twenty-nine ICG-HNPCC families fulfilling the Amsterdam criteria and 34 sHNPCC families fulfilling the sHNPCC criteria I were collected. PCR-SSCP and DNA sequencing analysis were employed to screen the germline mutations of the hMLH1 and hMSH2 genes in these families.Results The ICG group had more colorectal cancer (CRC) patients per family than did the suspected group (P<0.05). No statistical difference was observed in Lynch classification and familial tumor spectrum. In both groups of families, colorectal cancer was the most frequent malignancy, and carcinomas of the stomach, pancreas and uterus were the three most common extracolonic malignancies. Mutation screening showed that ICG-HNPCC and sHNPCC families had a similar mutation rate (31.0% vs 29.4%, P>0.05), mutation type, and mutation distribution. Comparison of the families with and without mutation showed no significant difference in CRC patients per family, Lynch classification, and tumor spectrum.Conclusions ICG-HNPCC and sHNPCC families that have similar clinical manifestations and genetic basis indicate a similar nature for cancer development. The application of sHNPCC criteria I will facilitate clinical diagnosis and treatment of small families.

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《中华医学杂志（英文版）》 |2004年第5期|748-752|共5页
作者
袁瑛; 叶俊; 郑树;
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作者单位

Deptartment of Oncology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China;

Cancer Research Institute, Zhejiang University, Hangzhou 310009, China;

Deptartment of Dermatology, Sir Run Run Show Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China;

Cancer Research Institute, Zhejiang University, Hangzhou 310009, China;

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原文格式 PDF
正文语种 chi
中图分类基础医学;
关键词
criteria; hereditary nonpolyposis colorectal cancer; suspected hereditary nonpolyposis colorectal cancer; mutation; mismatch repair gene;

机译：标准;遗传性非息肉性大肠癌;疑似遗传性非息肉性大肠癌;突变;错配修复基因;

Clinical and genetic features of International Collaborative Group-hereditary nonpolyposis colorectal cancer families and suspected hereditary nonpolyposis colorectal cancer families

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