Editorial A Molecular, Genetic, and Diagnostic Spotlight on Fanconi

Copyright © 2012 Laura E. Hays et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Eighty-five years ago Dr. Guido Fanconi described a family with three brothers with microcephaly, hyperpigmentation of the skin, hypoplasia of the testes, and who developed a lethal anemia between the ages of 5 and 7 [1, 2]. Since 1931, patients with this distinctive combination of clinical features have been classified as having Fanconi anemia (FA). To date, diagnosis of this disease, which as we know canmanifest with variable clinical presentation, is based on increased chromo-somal breakage in response to DNA crosslinking agents. In addition to anemia, FA patients are highly predisposed to leukemia, head and neck squamous cell carcinoma, and gynecological cancers [3]. FA is caused by biallelic or X chromosome-linked mutations in one of 15 different genes, eight of whose gene products (FANCA, FANCB, FANCC