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学科主题: 临床医学
题名:
Report of 16 kindreds and one kindred with hMLH1 germline mutation
作者: Zhao, B; Wang, ZJ; Xu, YF; Wan, YL; Li, P; Huang, YT
刊名: WORLD JOURNAL OF GASTROENTEROLOGY
发表日期: 2002-04-01
卷: 8, 期:2, 页:263-266
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Gastroenterology & Hepatology
研究领域[WOS]: Gastroenterology & Hepatology
关键词[WOS]: NONPOLYPOSIS COLORECTAL-CANCER ; LYNCH SYNDROME-I ; COLON-CANCER ; EXTRACOLONIC CANCER ; FAMILY HISTORY ; HEREDITARY ; CARCINOMA ; HNPCC ; COLECTOMY ; CARRIERS
英文摘要:

AIM: 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.

METHODS: 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.

RESULTS: 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 hMLHI. resulting in a stop codon and truncated protein. Three phenotypically normal family members were also found to carry the mutated gene.

CONCLUSION: HNPCC is a typical auto-dominant hereditary disease, the main characteristics include early onset and frequency of cancers: predominance of colorectal, especially right-sided colon cancers; frequency of multiple primary cancers (especially colorectal cancers). Segmental resection for colorectal cancers is not eligible for colorectal cancer patient in HNPCC kindreds. Intensive follow-up is essential for all patients and possible gene carriers. The first HNPCC kindred with hMLHI gene germline mutation was identified in Mainland China, and three phenotypically normal family members were found to be carriers of the mutated gene. The G265T germline (nonsense) mutation in the third exon of hMLH1 found here had not been reported previously in the literature.

语种: 英语
WOS记录号: WOS:000175104600015
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56843
Appears in Collections:北京大学第一临床医学院_普通外科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Surg, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Expt Ctr, Beijing 100034, Peoples R China

Recommended Citation:
Zhao, B,Wang, ZJ,Xu, YF,et al. Report of 16 kindreds and one kindred with hMLH1 germline mutation[J]. WORLD JOURNAL OF GASTROENTEROLOGY,2002,8(2):263-266.
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