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

T Yoshitaka1, N Matsubara, M Ikeda

  • 1First Department of Surgery, Okayama, University Medical School, Japan.

Biochemical and Biophysical Research Communications
|October 14, 1996
PubMed

Insights

Defective DNA repair genes in colorectal cancer (CRC) can cause genetic instability. Researchers identified alterations in the E2F-4 gene in CRC patients with this instability, suggesting E2F-4 as a potential target gene.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Microsatellite instability in colorectal cancer (CRC) is linked to defects in DNA mismatch repair genes.
  • The specific gene targets affected by these defects in CRC remain largely unidentified.

Purpose of the Study:

  • To investigate potential targets of defective DNA repair genes in CRC.
  • To screen for alterations in the E2F-4 gene in CRC specimens exhibiting genetic instability.

Main Methods:

  • Analysis of both cDNA and genomic sequences of the E2F-4 gene.
  • Screening of sporadic CRC specimens for the replication error-positive (RER+) phenotype.
  • Identification of tumor-specific copy number alterations within the E2F-4 gene.

Main Results:

  • Two out of 20 sporadic CRC patients displayed the RER+ phenotype.
  • Tumor-specific copy number alterations in 13 consecutive trinucleotide (CAG) repeats within the coding exon of E2F-4 were found exclusively in these two RER+ specimens.

Conclusions:

  • The E2F-4 gene may be a target of defective mismatch repair genes in genetically unstable colorectal cancer.
  • E2F-4 represents a potential target in CRC, alongside the TGF-beta type II receptor gene.

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