The Fanconi anaemia/BRCA Pathway

Nat Rev Cancer. 2003 Jan;3(1):23-34. doi: 10.1038/nrc970.

Abstract

Fanconi anaemia (FA) is a rare genetic cancer-susceptibility syndrome that is characterized by congenital abnormalities, bone-marrow failure and cellular sensitivity to DNA crosslinking agents. Seven FA-associated genes have recently been cloned, and their products were found to interact with well-known DNA-damage-response proteins, including BRCA1, ATM and NBS1. The FA proteins could therefore be involved in the cell-cycle checkpoint and DNA-repair pathways. Recent studies implicate the FA proteins in the process of repairing chromosome defects that occur during homologous recombination, and disruption of the FA genes results in chromosome instability--a common feature of many human cancers.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • BRCA1 Protein / physiology*
  • Chromosome Breakage / physiology
  • DNA Repair / genetics
  • DNA-Binding Proteins*
  • Disease Models, Animal
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / pathology
  • Fanconi Anemia / therapy
  • Fanconi Anemia Complementation Group A Protein
  • Genetic Complementation Test
  • Humans
  • Mice
  • Proteins / physiology*
  • Signal Transduction

Substances

  • BRCA1 Protein
  • DNA-Binding Proteins
  • FANCA protein, human
  • Fanca protein, mouse
  • Fanconi Anemia Complementation Group A Protein
  • Proteins