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

@article{Reid2007BiallelicMI,
  title={Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer},
  author={Sarah Reid and Detlev Schindler and Helmut Hanenberg and Karen Barker and Sandra Hanks and Reinhard Kalb and Kornelia Neveling and Patrick Kelly and Sheila Seal and Marcel Freund and Melanie Wurm and Sat Dev Batish and Francis Peter Lach and S. Hakan Yetgin and Heidemarie Neitzel and Hany Ariffin and Marc Tischkowitz and Christopher G Mathew and Arleen D. Auerbach and Nazneen Rahman},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={162-164}
}
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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