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. 2007 Feb;39(2):162-4.
doi: 10.1038/ng1947. Epub 2006 Dec 31.

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Sarah Reid  1 , Detlev Schindler, Helmut Hanenberg, Karen Barker, Sandra Hanks, Reinhard Kalb, Kornelia Neveling, Patrick Kelly, Sheila Seal, Marcel Freund, Melanie Wurm, Sat Dev Batish, Francis P Lach, Sevgi Yetgin, Heidemarie Neitzel, Hany Ariffin, Marc Tischkowitz, Christopher G Mathew, Arleen D Auerbach, Nazneen Rahman
Affiliations

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Sarah Reid et al. Nat Genet. 2007 Feb.

Abstract

PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer.

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