Affordable Access

Publisher Website

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

Authors
Journal
Toxicology Letters
0378-4274
Publisher
Elsevier
Publication Date
Volume
67
Identifiers
DOI: 10.1016/0378-4274(93)90061-2
Keywords
  • Inherited Genetic Instability
  • Mutation
  • Oncogenesis
  • Dna Repair Genes
Disciplines
  • Medicine

Abstract

Abstract 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.

There are no comments yet on this publication. Be the first to share your thoughts.