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. 2007 Feb;39(2):159-61.
doi: 10.1038/ng1942. Epub 2006 Dec 31.

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

Bing Xia  1 , Josephine C Dorsman, Najim Ameziane, Yne de Vries, Martin A Rooimans, Qing Sheng, Gerard Pals, Abdellatif Errami, Eliane Gluckman, Julian Llera, Weidong Wang, David M Livingston, Hans Joenje, Johan P de Winter
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Fanconi anemia is associated with a defect in the BRCA2 partner PALB2

Bing Xia et al. Nat Genet. 2007 Feb.

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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