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


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.

Pubmed ID: 17200672


  • Xia B
  • Dorsman JC
  • Ameziane N
  • de Vries Y
  • Rooimans MA
  • Sheng Q
  • Pals G
  • Errami A
  • Gluckman E
  • Llera J
  • Wang W
  • Livingston DM
  • Joenje H
  • de Winter JP


Nature genetics

Publication Data

February 30, 2007

Associated Grants

  • Agency: Intramural NIH HHS, Id:

Mesh Terms

  • BRCA2 Protein
  • Breast Neoplasms
  • Fanconi Anemia
  • Fanconi Anemia Complementation Group Proteins
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Nuclear Proteins
  • Tumor Suppressor Proteins