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The natural somatic mutation frequency and human carcinogenesis

A J Simpson1

  • 1Laboratory of Cancer Genetics, Ludwig Institute for Cancer Research, São Paulo, Brazil.

Advances in Cancer Research
|January 1, 1997
PubMed
Summary

Somatic mutations accumulate naturally in human tissues, with mutation frequency increasing exponentially with age. This suggests cancer is a normal life cycle process, highlighting the need to understand and potentially alter natural somatic mutation rates.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • The DNA mismatch repair system is crucial for controlling somatic mutations and preventing cancer.
  • Deficiency in mismatch repair leads to a significantly accelerated mutation rate, a phenotype measurable at microsatellite loci.
  • However, even intact mismatch repair systems are not fully efficient, contributing to genetic heterogeneity in tumors.

Purpose of the Study:

  • To investigate the natural rate of somatic mutation in human tissues.
  • To explore the relationship between mutation frequency, age, and carcinogenesis.
  • To compare somatic and germline mutation rates and their evolutionary implications.

Main Methods:

  • Analysis of microsatellite and minisatellite alterations in normal human tissues.

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  • Detection of HPRT (hypoxanthine phosphoribosyltransferase) mutations in human kidney cells.
  • Comparison of mutation frequencies in epithelial cells versus peripheral blood lymphocytes.

    • Main Results:

    • Estimated mutation frequency in normal human tissues is approximately 10^-2 per microsatellite locus and 10^-1 per minisatellite locus.
    • HPRT mutation frequency in kidneys increases exponentially with age.
    • Somatic mutation rates in epithelial cells may be 10-fold higher than in lymphocytes.

    Conclusions:

    • Elevated somatic mutation rates are sufficient to explain a significant portion of human carcinogenesis without invoking a mutator phenotype.
    • The age-related increase in mutation frequency supports the role of DNA repair efficiency and cell division in cancer development.
    • High somatic mutation levels reflect germline mutation rates selected over evolutionary time, suggesting cancer is a natural life cycle process.