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Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

Nature genetics | Feb 30, 2007

http://www.ncbi.nlm.nih.gov/pubmed/17200672

The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. PALB2-deficient cells showed hypersensitivity to cross-linking agents and lacked chromatin-bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion.

Pubmed ID: 17200672 RIS Download

Mesh terms: BRCA2 Protein | Breast Neoplasms | Fanconi Anemia | Fanconi Anemia Complementation Group Proteins | Genetic Predisposition to Disease | Humans | Mutation | Nuclear Proteins | Tumor Suppressor Proteins

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Associated grants

  • Agency: Intramural NIH HHS, Id:

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