title: Diagnosis of Fanconi anemia by diepoxybutane analysis.
abstract: Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer, particularly hematological malignancies and solid tumors of the head and neck. The main role of FA proteins is in the repair of DNA interstrand crosslinks (ICLs). FA results from pathogenic variants in at least sixteen distinct genes, causing genomic instability. Although the highly variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, diagnosis based on a profound sensitivity to DNA-crosslinking agents can be used to identify the pre-anemia patient as well as patients with aplastic anemia or leukemia who may or may not have the physical stigmata associated with the syndrome. Diepoxybutane (DEB) analysis is the preferred test for FA because other agents have higher rates of false-positive and false-negative results.
authors.affiliation: Program in Human Genetics and Hematology, The Rockefeller University, New York, New York.
authors.forename: Arleen D
authors.initials: AD
authors.lastname: Auerbach
mesh_terms: D019457:Chromosome Breakage; D004852:Epoxy Compounds / Q000378:metabolism*; D005199:Fanconi Anemia / Q000175:diagnosis*; D005347:Fibroblasts / Q000473:pathology; D005821:Genetic Techniques; D006801:Humans; D010641:Phenotype; D011181:Postnatal Care; D011296:Prenatal Diagnosis; D013194:Staining and Labeling
chemical_list: D004852:Epoxy Compounds; C007366:diepoxybutane
keywords: DEB test; DNA interstrand crosslink repair; Fanconi anemia; genomic instability
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