TY - JOUR T1 - Investigation of <em>FANCA</em> Mutations in Greek Patients JF - Anticancer Research JO - Anticancer Res SP - 3369 LP - 3374 VL - 33 IS - 8 AU - NIKOLETTA SELENTI AU - CHRISTALENA SOFOCLEOUS AU - ANTONIS KATTAMIS AU - AGGELIKI KOLIALEXI AU - SOPHIA KITSIOU AU - ELENA FRYSSIRA AU - SOPHIA POLYCHRONOPOULOU AU - EMMANOUEL KANAVAKIS AU - ARIADNI MAVROU Y1 - 2013/08/01 UR - http://ar.iiarjournals.org/content/33/8/3369.abstract N2 - 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. ER -