title: Stress and DNA repair biology of the Fanconi anemia pathway.
abstract: Fanconi anemia (FA) represents a paradigm of rare genetic diseases, where the quest for cause and cure has led to seminal discoveries in cancer biology. Although a total of 16 FA genes have been identified thus far, the biochemical function of many of the FA proteins remains to be elucidated. FA is rare, yet the fact that 5 FA genes are in fact familial breast cancer genes and FA gene mutations are found frequently in sporadic cancers suggest wider applicability in hematopoiesis and oncology. Establishing the interaction network involving the FA proteins and their associated partners has revealed an intersection of FA with several DNA repair pathways, including homologous recombination, DNA mismatch repair, nucleotide excision repair, and translesion DNA synthesis. Importantly, recent studies have shown a major involvement of the FA pathway in the tolerance of reactive aldehydes. Moreover, despite improved outcomes in stem cell transplantation in the treatment of FA, many challenges remain in patient care.
authors.affiliation: Department of Molecular Biophysics and Biochemistry.
authors.forename: Simonne
authors.initials: S
authors.lastname: Longerich
authors.affiliation: Department of Pediatrics, Department of Pathology, and.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Molecular Biophysics and Biochemistry.
authors.forename: Yong
authors.initials: Y
authors.lastname: Xiong
authors.affiliation: Department of Molecular Biophysics and Biochemistry, Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT.
authors.forename: Patrick
authors.initials: P
authors.lastname: Sung
authors.affiliation: Department of Pediatrics, Department of Pathology, and.
authors.forename: Gary M
authors.initials: GM
authors.lastname: Kupfer
mesh_terms: D000818:Animals; D048749:Cytokinesis; D004260:DNA Repair; D004261:DNA Replication; D005199:Fanconi Anemia / Q000235:genetics / Q000473:pathology*; D006801:Humans; D018384:Oxidative Stress; D013312:Stress, Physiological