The Fanconi anaemia genome stability and tumour suppressor network

Mutagenesis. 2002 Nov;17(6):529-38. doi: 10.1093/mutage/17.6.529.

Abstract

Fanconi anaemia (FA) is a rare autosomal recessive disease characterized by increased spontaneous and DNA crosslinker-induced chromosome instability, progressive pancytopenia and cancer susceptibility. An increasing number of genes are involved in FA, including the breast cancer susceptibility gene BRCA2. Five of the FA proteins (FANCA, FANCC, FANCE, FANCF and FANCG) assemble in a complex that is required for FANCD2 activation in response to DNA crosslinks. Active FANCD2 then interacts with BRCA1 and forms discrete nuclear foci. FANCD2 is independently phosphorylated by ATM (the protein whose gene is mutated in ataxia telangiectasia) in response to ionizing radiation. In addition, the FA proteins are interconnected with other nuclear and cytoplasmic factors all related to cellular responses to carcinogenic stress and to caretaker and gatekeeper functions. In this review, the most recently published data on the molecular biology of the FA pathway and its molecular crosstalk with ATM, BRCA1 and BRCA2, proteins involved in xenobiotic and reactive oxygen species metabolism, apoptosis, cell cycle control and telomere stability, are summarized. The currently available data indicate that FA is a central node in a complex nuclear and cytoplasmic network of tumour suppressor and genome stability pathways fully committed to prevent cancer.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Apoptosis
  • Ataxia Telangiectasia Mutated Proteins
  • Cell Cycle
  • Cell Cycle Proteins
  • Cell Nucleus / metabolism
  • Chromatin / genetics
  • DNA Repair
  • DNA-Binding Proteins
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / metabolism
  • Fanconi Anemia / pathology
  • Fanconi Anemia Complementation Group D2 Protein
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genes, Tumor Suppressor*
  • Humans
  • Male
  • Models, Biological
  • Mutation
  • Nuclear Proteins / genetics
  • Oxidative Stress
  • Protein Serine-Threonine Kinases / genetics
  • Telomere / genetics
  • Transcription, Genetic
  • Tumor Suppressor Proteins

Substances

  • Cell Cycle Proteins
  • Chromatin
  • DNA-Binding Proteins
  • FANCD2 protein, human
  • Fanconi Anemia Complementation Group D2 Protein
  • Nuclear Proteins
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Serine-Threonine Kinases