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Extensive somatic microsatellite mutations in normal human tissue.

S Vilkki1, J L Tsao, A Loukola

  • 1Department of Medical Genetics, University of Helsinki, FIN-00014 Helsinki, Finland.

Cancer Research
|June 5, 2001
PubMed
Summary
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Microsatellite instability, a hallmark of DNA mismatch repair (MMR) deficiency, can occur in normal tissues. Even without a cancer diagnosis, MMR-deficient cells accumulate mutations, suggesting early tumor progression events.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Microsatellite (MS) instability is a known characteristic of tumors with DNA mismatch repair (MMR) deficiencies.
  • Typically, MS instability is absent in normal tissues adjacent to tumors.
  • Rare cases of congenital MMR deficiencies show MS mutations in normal tissues.

Purpose of the Study:

  • To investigate the presence and frequency of MS mutations in normal tissues from an individual with congenital MMR deficiency.
  • To understand the early mutational events in MMR-deficient cells.

Main Methods:

  • Autopsy tissues from a 4-year-old with congenital MMR deficiency (MLH1-/-) were analyzed.
  • Microsatellite (MS) loci, specifically CA-repeat regions, were examined for mutations (insertions and deletions).

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Main Results:

  • Insertions and deletions were observed in CA-repeat MS loci within normal tissues.
  • An estimated 0.26 to 1.4 mutations per MS locus per cell were found in normal tissues (heart, lymph node, kidney, bladder epithelium).
  • Phenotypically normal MMR-deficient cells were found to commonly accumulate MS mutations.

Conclusions:

  • Loss of MMR function leads to the accumulation of MS mutations even in phenotypically normal cells.
  • The accumulation of MS mutations may be an early event in the progression of MMR-deficient tumors, potentially preceding a gatekeeper mutation.