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Fanconi anemia (FA) is a rare genetically heterogeneous disease characterized  by developmental abnormalities, progressive bone marrow failure, and cancer  susceptibility. We examined spontaneous, diepoxybutane (DEB)- induced and  radiation-induced sister chromatid exchanges (SCEs) in wholeblood lymphocyte  cultures of bone marrow failure (BMF) patients including Fanconi anemia,  mothers of affected individuals, and healthy controls. The baseline frequency  of SCE in FA cells was similar to that observed in controls. However, in  response to DEB SCE frequencies in FA patients and their mothers were  significantly increased compared to both non-FA BMF families and healthy  controls. In response to ionizing radiation, cells displayed increased  frequency of SCE, but no differences between FA patients and non-FA BMF  patients were seen. Our data confirm and expand previous findings by showing  that SCE induced by DEB can be used as an adjunct diagnostic test not only  for FA patients, but also for female heterozygous carriers, at least for  complementation groups FANCA and FANCD2. [Projekat Ministarstva nauke  Republike Srbije, br. 173046

Enhanced frequency of sister chromatid exchanges induced by diepoxybutane is specific characteristic of Fanconi anemia cellular phenotype