title: Fanconi anemia: a signal transduction and DNA repair pathway.
abstract: 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.
authors.affiliation: Professor of Pediatrics and Pathology, Section of Pediatric Hematology-Oncology, Yale School of Medicine, New Haven, Connecticut.
authors.forename: Gary M
authors.initials: GM
authors.lastname: Kupfer
mesh_terms: D016203:CDC2 Protein Kinase / Q000378:metabolism; D004249:DNA Damage; D004260:DNA Repair; D005199:Fanconi Anemia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D051856:Fanconi Anemia Complementation Group Proteins / Q000378:metabolism; D006801:Humans; D010766:Phosphorylation; D011485:Protein Binding; D015398:Signal Transduction / Q000235:genetics* / Q000502:physiology
chemical_list: D051856:Fanconi Anemia Complementation Group Proteins; D016203:CDC2 Protein Kinase
keywords: DNA repair; Fanconi anemia; bone marrow failure