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Genetic Analysis of HNPCC Yasuhito Yuasa 1 1Department of Hygiene and Oncology, Tokyo Medical and Dental University School of Medicine Keyword: 大腸癌 , ミスマッチ修復遺伝子 , TGF-βⅡ型レセプター遺伝子 , 突然変異 , 遺伝子診断 pp.863-868
Published Date 1996/6/25
DOI https://doi.org/10.11477/mf.1403104169
  • Abstract
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 Hereditary nonpolyposis colorectal cancer (HNPCC) is one of the cancer susceptible syndromes which are caused by the inheritance of mutations in the DNA mismatch repair genes, such as hMSH2, hMLH1, hPMS1 and hPMS2. To investigate the role of genetic alterations of hMSH2 and hMLH1 in HNPCC tumorigenesis, we analyzed Japanese kindreds with HNPCC. There were six HNPCC kindreds with germ line mutations of the hMSH2, and a HNPCC kindred with those of hMLH1. These results may identify presymptomatic patients with HNPCC.

 To determine the relation between the mutation of the TGF-β type Ⅱ receptor gene and the genomic instability in the tumorigenesis of HNPCC, we examined genomic DNA of tumors from patients with HNPCC. There were one or two A deletions in the (A)10 repeat in 17 out of 24 (71%) genomic instability-positive HNPCC tumors, while there were no A deletions in 14 genomic instability-negative tumors. These deletions inactivated the receptor through a frameshift mutation which caused protein truncation. No mutations were detected in the corresponding normal cells from these cases, which indicated a somatic mutation. These results suggested that the TGF-β type Ⅱ receptor gene was a major target of genomic instability in HNPCC tomorigenesis.


Copyright © 1996, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1219 印刷版ISSN 0536-2180 医学書院

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