Mutations of E2F-4 trinucleotide repeats in colorectal cancer with microsatellite instability

Biochem Biophys Res Commun. 1996 Oct 14;227(2):553-7. doi: 10.1006/bbrc.1996.1544.


Genetic instability at microsatellites in some colorectal cancer (CRC) have been linked to the defects of human mismatch repair genes, but the targets of these defective genes have been largely unknown. We screened CRC specimens for alteration of E2F-4 gene by analyzing both cDNA and genomic sequences along with replication error (RER+) phenotype. Two out of 20 sporadic CRC patients showed RER+ phenotype. We found tumor-specific copy number alteration in 13 consecutive trinucleotide (CAG) repeats within the coding exon of E2F-4 exclusively in these 2 specimens. Thus, E2F-4 may be a clue of the target gene of defective repair genes in CRC with genetic instability in addition to the TGF-beta type II receptor gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / pathology
  • Colorectal Neoplasms / surgery
  • DNA Primers
  • DNA Repair
  • DNA-Binding Proteins / genetics*
  • E2F4 Transcription Factor
  • Humans
  • Intestinal Mucosa / metabolism
  • Intestinal Mucosa / pathology
  • Molecular Sequence Data
  • Mutation*
  • Necrosis
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Protein-Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics
  • Transcription Factors / genetics*
  • Trinucleotide Repeats*


  • DNA Primers
  • DNA-Binding Proteins
  • E2F4 Transcription Factor
  • Receptors, Transforming Growth Factor beta
  • Transcription Factors
  • Protein-Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II