APC Tumor Suppressor Gene Isamu Nishisho 1,2 , Hideyuki Mishima 1 , Toshio Yagyu 1 , Masakazu Ikenaga 1 , Ichiro Takemasa 1 1Department of Surgery, Osaka National Hospital 2Clinical Research Institute, Osaka National Hospital Keyword: APC遺伝子 , 家族性大腸ポリポーシス症 , 癌抑制遺伝子 , カテニン , カドヘリン pp.601-606
Published Date 1997/3/25
DOI https://doi.org/10.11477/mf.1403105104
  • Abstract
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 APC (adenomatous polyposis coli) gene was identified as a responsible gene for FAP (familial adenomatous polyposis) in 1991 by positional cloning strategy. Germ-line mutations have been found in approximately 70% of FAP patients. Moreover APC gene is frequently inactivated in sporadic colorectal tumors. Inactivation of APC gene is usually brought about by creation of stop codons through point mutations or frame shift mutations. Locations of some of the germ-line mutations have been reported to correlate with phenotypic manifestations of the patients. The first 55 amino adids of APC protein is proved to form a stable, parallel, helical dimer. In addition, the central portion of APC protein was found to form a complex with β-catenin which associates with the cytoplasmic tail of the cell adhesion molecule E-cadherin, suggesting an important function of APC protein in regulation of cell growth and differentiation. The identification of APC mutations has made presymptomatic diagnosis possible.

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