Microsatellite instability in the development of DNA mismatch repair deficient tumors

Cancer Biomark. 2006;2(1-2):69-86. doi: 10.3233/cbm-2006-21-208.


Microsatellites are highly abundant short repetitive sequences found in the genomes across different species. They have gained increasing interest in recent years because length alterations in several coding as well as non-coding microsatellites are associated with a variety of different disorders. Particularly, microsatellite mutations play an important role in tumorigenesis of DNA mismatch repair deficient tumors that account for up to a 15% of colorectal, endometrial, and various other cancers. The systematic analysis of the distribution and function of affected microsatellite sequences has facilitated to unravel important steps in the selection processes that drive tumorigenesis. Here, we review the role of microsatellite mutations in the development of cancers with DNA mismatch repair deficiency, outlining biostatistical approaches for the identification of MSI target genes with relevance to MSI associated carcinogenesis. Knowledge about the biological impact of microsatellite mutations in these genes will potentially help to develop modified clinical concepts for diagnosis, prevention, and treatment of microsatellite unstable human cancers.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / metabolism*
  • DNA Mismatch Repair*
  • Humans
  • Microsatellite Instability*
  • Microsatellite Repeats / genetics*