Report of 16 kindreds and one kindred with hMLH1 germline mutation

World Journal of Gastroenterology : WJG
Bo ZhaoYan-Ting Huang

Abstract

To analyze the diagnosis and treatment of 16 hereditary nonpolyposis colorectal cancer (HNPCC) kindreds, and to report the first kindred with hMLH1 germline mutation in Mainland China. The diagnosis, treatment and follow-up study of 16 HNPCC kindreds were retrospectively reviewed. Data concerning site of the malignant tumor, age at the diagnosis, history of synchronous and/or metachronous cancer, and histopathology of tumors were recorded. All treatments had won formal consent. PCR and SSCP were used to screen the coding region of hMLH1 and hMSH2 genes. Variant bands were sequenced by a 377 DNA sequencer. Among sixteen kindreds, sixty-eight patients had a mean age of 50.8 years, including twenty-one multiple cancer patients and forty-six colorectal cancer patients (metachronous colorectal cancers in sixteen). A total of one hundred and one malignant neoplasms were found in these sixty-eight patients, including 50 colonic, 17 rectal, 11 gastric, 7 endometrial, and 4 esophageal cancers. 39.5% colorectal patients had metachronous cancers within ten years who needed reoperations. A germline G265T nonsense mutation was found in the third exon of hMLH1, resulting in a stop codon and truncated protein. Three phenotypically normal fami...Continue Reading

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Citations

Aug 14, 2002·World Journal of Gastroenterology : WJG·Lian-Xin LiuDa-Xun Piao
Apr 8, 2003·World Journal of Gastroenterology : WJG·Dian-Chun FangYuan-Hui Luo
Jan 1, 2003·World Journal of Gastroenterology : WJG·Da-Jun DengSteven M Powell
Oct 16, 2002·World Journal of Gastroenterology : WJG·Yong-Mao Song, Shu Zheng
Jan 18, 2003·World Journal of Gastroenterology : WJG·San-Jun CaiDa-Ren Shi

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