Open AccessDiagnosis of Fanconi Anemia by Diepoxybutane Analysis
Author(s) -
Auerbach Arleen D.
Publication year - 2015
Publication title -
current protocols in human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.282
H-Index - 30
eISSN - 1934-8258
pISSN - 1934-8266
DOI - 10.1002/0471142905.hg0807s85
Subject(s) - fanconi anemia , bone marrow failure , aplastic anemia , anemia , phenotype , cancer , leukemia , cancer research , genome instability , bone marrow , medicine , gene , dna , immunology , biology , dna repair , genetics , dna damage , haematopoiesis , stem cell
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. © 2015 by John Wiley & Sons, Inc.