Hypermethylation of the APC (adenomatous polyposis coli) gene promoter region in human colorectal carcinoma

Int J Cancer. 1997 Mar 17;70(6):644-8. doi: 10.1002/(sici)1097-0215(19970317)70:6<644::aid-ijc3>3.0.co;2-v.


Germline mutations of the putative tumor suppressor gene APC are associated in high frequency with the familial adenomatous polyposis, predisposing the patients to colorectal neoplasia. Similarly, sequence analyses have revealed that in more than half of patients with sporadic colorectal carcinoma or adenoma, the APC gene was mutated. By employing genomic sequencing, i.e., base-specific analysis of methylated cytosines, we show here that the promoter region of the APC gene is heavily methylated at CpG sites in patients with colorectal carcinoma in comparison with normal colonic mucosa and premalignant adenomas. Our results suggest that cytosine methylation of the regulatory sequences of the APC gene could be involved in the progression of human colorectal cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoma / genetics*
  • Adenoma / metabolism
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / metabolism
  • Cytosine / metabolism*
  • DNA Methylation
  • Genes, APC / genetics*
  • Germ-Line Mutation
  • Humans
  • Intestinal Mucosa / metabolism
  • Polymerase Chain Reaction
  • Precancerous Conditions / genetics*
  • Precancerous Conditions / metabolism
  • Promoter Regions, Genetic


  • Cytosine