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by Jonathan B Weitzman
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RESEARCH ROUND-UP
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BRCA2 loss in Fanconi Anemia
Email: Jonathan B Weitzman - jonathanweitzman@hotmail.com
News from The Scientist 2002, 3(1):20020614-01
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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, Niall Howlett and colleagues report the characterization of mutations in cells from the FA subtypes B and D1 (ScienceXpress 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. | | Fanconi anemia and DNA repair
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| 2. | | Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.
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| 3. | | [http://www.sciencexpress.org]
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| | | Howlett NG, Taniguchi T, Olson S, et al.: Biallelic inactivation of BRCA2 in Fanconi anemia. ScienceXpress 2002, DOI:10.1126/science.1073834.
Return to citation in text:
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