RT Journal Article SR Electronic T1 Investigation of FANCA Mutations in Greek Patients JF Anticancer Research JO Anticancer Res FD International Institute of Anticancer Research SP 3369 OP 3374 VO 33 IS 8 A1 NIKOLETTA SELENTI A1 CHRISTALENA SOFOCLEOUS A1 ANTONIS KATTAMIS A1 AGGELIKI KOLIALEXI A1 SOPHIA KITSIOU A1 ELENA FRYSSIRA A1 SOPHIA POLYCHRONOPOULOU A1 EMMANOUEL KANAVAKIS A1 ARIADNI MAVROU YR 2013 UL http://ar.iiarjournals.org/content/33/8/3369.abstract AB Background: Fanconi anemia (FA) is a rare genetic disease characterized by considerable heterogeneity. Fifteen subtypes are currently recognised and deletions of the Fanconi anemia complementation group A (FANCA) gene account for more than 65% of FA cases. We report on the results from a cohort of 166 patients referred to the Department of Medical Genetics of Athens University for genetic investigation after the clinical suspicion of FA. Materials and Methods: For clastogen-induced chromosome damage, cultures were set up with the addition of mitomycin C (MMC) and diepoxybutane (DEB), respectively. Following a positive cytogenetic result, molecular analysis was performed to allow identification of causative mutations in the FANCA gene. Results: A total of 13/166 patients were diagnosed with FA and 8/13 belonged to the FA-A subtype. A novel point mutation was identified in exon 26 of FANCA gene. Conclusion: In our study 62% of FA patients were classified in the FA-A subtype and a point mutation in exon 26 was noted for the first time.