Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability
2008

Frameshift Mutations in PTP Genes in Colorectal Tumors

Sample size: 90 publication Evidence: moderate

Author Information

Author(s): Sebastian Korff, Stefan M. Woerner, Yan P. Yuan, Peer Bork, Magnus von Knebel Doeberitz, Johannes Gebert

Primary Institution: University of Heidelberg, Heidelberg, Germany

Hypothesis

Colorectal tumors characterized by high-level microsatellite instability (MSI-H) might show an increased frequency of frameshift mutations in PTP genes with long mononucleotide repeats.

Conclusion

Mutations within PTP genes do not seem to play a common role in MSI tumorigenesis, as no mutation frequency reached statistical significance.

Supporting Evidence

  • About 32% of MSI-H tumors showed at least one affected PTP gene.
  • PTPN21 showed the highest mutation frequency at 17% in MSI-H tumors.
  • Frameshift mutations were identified in 6 PTP genes.

Takeaway

The study looked at certain genes in colorectal cancer and found that while some had mutations, they didn't seem to be important for causing the cancer.

Methodology

Bioinformatic analysis and examination of genetic alterations in MSI-H colon cell lines, colorectal cancers, and adenomas.

Limitations

The study did not extend the mutation search to the entire coding sequence of each PTP gene.

Participant Demographics

Included MSI-H colon cell lines, colorectal cancers, and adenomas.

Digital Object Identifier (DOI)

10.1186/1471-2407-8-329

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