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Genome Biology

, 3:spotlight-20020614-01 | Cite as

BRCA2 loss in Fanconi Anemia

  • Jonathan B Weitzman
Research news
  • 355 Downloads

Keywords

Breast Cancer Anemia Cancer Susceptibility Fanconi Anemia Breast Cancer Susceptibility 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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.

References

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

Copyright information

© BioMed Central Ltd 2002

Authors and Affiliations

  • Jonathan B Weitzman

There are no affiliations available

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