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Yale J Biol Med. 2013 Dec 13;86(4):491-7.

Fanconi anemia: a signal transduction and DNA repair pathway.

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Professor of Pediatrics and Pathology, Section of Pediatric Hematology-Oncology, Yale School of Medicine, New Haven, Connecticut.


Fanconi anemia (FA) is a fascinating, rare genetic disorder marked by congenital defects, bone marrow failure, and cancer susceptibility. Research in recent years has led to the elucidation of FA as a DNA repair disorder and involved multiple pathways as well as having wide applicability to common cancers, including breast, ovarian, and head and neck. This review will describe the clinical aspects of FA as well as the current state of its molecular pathophysiology. In particular, work from the Kupfer laboratory will be described that demonstrates how the FA pathway interacts with multiple DNA repair pathways, including the mismatch repair system and signal transduction pathway of the DNA damage response.


DNA repair; Fanconi anemia; bone marrow failure

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