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

Harvard University, Cambridge, Massachusetts, United States
Nature Genetics (Impact Factor: 29.65). 03/2007; 39(2):159-61. DOI: 10.1038/ng1942
Source: PubMed

ABSTRACT 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.

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