Human genetic instability syndromes: single gene defects with increased risk of cancer

Toxicol Lett. 1993 Apr;67(1-3):259-81. doi: 10.1016/0378-4274(93)90061-2.


The experimental findings of the last 5 years are reviewed for the genetic instability syndromes: Xeroderma pigmentosum, Fanconi's anaemia, Ataxia telangiectasia and Bloom's syndrome. In these autosomal recessive genetic diseases, single gene defects lead to genetic instability, increased mutation rates and cancer. Deficiencies in the ability to effectively repair DNA lesions have been suggested for all of these syndromes. The status of characterization of these DNA repair defects is presented and the possible mechanisms of lesion fixation as mutation are discussed. The four known human genes whose mutation leads to inherited genetic instability are described.

Publication types

  • Review

MeSH terms

  • Ataxia Telangiectasia / genetics
  • Bloom Syndrome / genetics
  • Cockayne Syndrome / genetics
  • DNA Repair / genetics
  • Fanconi Anemia / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Mutation*
  • Neoplasms / genetics*
  • Risk
  • Syndrome
  • Xeroderma Pigmentosum / genetics