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BRCA2 loss in Fanconi Anemia

Genome Biology20023:spotlight-20020614-01

  • Published:


  • Breast Cancer
  • Anemia
  • Cancer Susceptibility
  • Fanconi Anemia
  • Breast Cancer Susceptibility

Fanconi Anemia (FA) is a recessive cancer susceptibility syndrome. Six FA genes have been cloned and encode proteins involved in a DNA-damage response pathway. In the June 13 ScienceXpress, Howlett et al. report the characterization of mutations in cells from the FA subtypes B and D1 (ScienceXpress 13 June 2002, DOI:10.1126/science.1073834). They discovered biallelic mutations in the BRCA2 breast cancer susceptibility gene; the mutations create frameshifts resulting in truncated BRCA2 protein. Howlett et al. show that restoring BRCA2 expression could rescue the phenotype of FA cells and restore resistance to DNA-damaging agents. The authors propose a model linking FA-associated genes to the regulation of a common DNA-damage response pathway.


  1. Fanconi anemia and DNA repairGoogle Scholar
  2. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.Google Scholar
  3. ScienceXpress, []


© BioMed Central Ltd 2002