International Journal of Hematology

DOI: 10.1007/s12185-011-0777-z Pages: 417-424

Fanconi anemia: a disorder defective in the DNA damage response

1. Kyushu University, Department of Molecular Oncology, Graduate School of Medical Sciences

2. Kyoto University, Laboratory of DNA damage signaling, Department of Late Effect Studies, Radiation Biology Center

Correspondence to:
Minoru Takata
Email: mtakata@house.rbc.kyoto-u.ac.jp

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Abstract

Fanconi anemia (FA) is a cancer predisposition disorder characterized by progressive bone marrow failure, congenital developmental defects, chromosomal abnormalities, and cellular hypersensitivity to DNA interstrand crosslink (ICL) agents. So far mutations in 14 FANC genes were identified in FA or FA-like patients. These gene products constitute a common ubiquitin–phosphorylation network called the “FA pathway” and cooperate with other proteins involved in DNA repair and cell cycle control to repair ICL lesions and to maintain genome stability. In this review, we summarize recent exciting discoveries that have expanded our view of the molecular mechanisms operating in DNA repair and DNA damage signaling.

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