PT  - JOURNAL ARTICLE
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
TI  - Investigation of <em>FANCA</em> Mutations in Greek Patients
DP  - 2013 Aug 01
TA  - Anticancer Research
PG  - 3369--3374
VI  - 33
IP  - 8
4099  - http://ar.iiarjournals.org/content/33/8/3369.short
4100  - http://ar.iiarjournals.org/content/33/8/3369.full
SO  - Anticancer Res2013 Aug 01; 33
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.