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Nat Genet. 2007 Feb;39(2):159-61. Epub 2006 Dec 31.

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

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1
Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA.

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.

PMID:
17200672
DOI:
10.1038/ng1942
[Indexed for MEDLINE]
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