Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test

Genomics. 1994 Mar 1;20(1):1-4. doi: 10.1006/geno.1994.1119.


Familial adenomatous polyposis (FAP) is usually associated with protein truncating mutations in the adenomatous polyposis coli (APC) gene. The APC mutations are known to play a major role in colorectal carcinogenesis. For the identification of protein truncating mutations of the APC gene, we developed a rapid, sensitive, and direct screening procedure. The technique is based on the in vitro transcription and translation of the genomic PCR products and is called the protein truncation test. Samples of DNA from individual FAP patients, members of a FAP family, colorectal tumors, and colorectal tumor-derived cell lines were used to show the effectiveness of this method.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli Protein
  • Base Sequence
  • Colorectal Neoplasms / genetics
  • DNA Mutational Analysis / methods*
  • DNA Mutational Analysis / statistics & numerical data
  • DNA Primers / genetics
  • Exons
  • Female
  • Genes, APC*
  • Humans
  • Male
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics*
  • Pedigree
  • Protein Biosynthesis
  • Sensitivity and Specificity


  • Adenomatous Polyposis Coli Protein
  • DNA Primers
  • Neoplasm Proteins