Crosslinks and crosstalk: human cancer syndromes and DNA repair defects

Cancer Cell. 2004 Dec;6(6):539-45. doi: 10.1016/j.ccr.2004.12.001.

Abstract

A subset of human cancer syndromes result from inherited defects in genes responsible for DNA repair. During the past few years, discoveries concerning the intersection of certain DNA repair processes have increased our understanding of how the disruption of specific DNA repair mechanisms leads to genomic instability and tumorigenesis. This review focuses on the human genes MUTYH, BRCA2/FANCD1, and BLM.

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adenosine Triphosphatases / metabolism
  • BRCA2 Protein / genetics
  • BRCA2 Protein / metabolism
  • Bloom Syndrome / genetics
  • Bloom Syndrome / metabolism
  • Colorectal Neoplasms / genetics
  • DNA Glycosylases / genetics
  • DNA Glycosylases / metabolism
  • DNA Helicases / genetics
  • DNA Helicases / metabolism
  • DNA Repair / genetics*
  • Fanconi Anemia / genetics
  • Fanconi Anemia / metabolism
  • Humans
  • Models, Genetic
  • Mutation
  • Neoplastic Syndromes, Hereditary / genetics*
  • Neoplastic Syndromes, Hereditary / metabolism
  • RecQ Helicases

Substances

  • BRCA2 Protein
  • DNA Glycosylases
  • mutY adenine glycosylase
  • Adenosine Triphosphatases
  • Bloom syndrome protein
  • DNA Helicases
  • RecQ Helicases