The spectrum of the APC pathogenic mutations in Slovak FAP patients.
OBJECTIVE
The adenomatous polyposis coli (APC) gene was analyzed for germline mutations in 113 familial adenomatous polyposis suspected families from all over Slovakia. Mutation screening was performed using single strand conformation polymorphism (SSCP) and DNA sequencing.


RESULTS
Mutations in the APC gene were found in 39 (34.5%) Slovak families and 25 different pathogenic mutations throughout the APC gene were identified. Of these, 12 mutations were deletion, one was insertion and 12 were base substitution.


CONCLUSIONS
Molecular diagnostics of Slovak FAP families revealed broad palette of mutations in crucial APC gene. The patients with identified APC gene mutations were assigned to a specific therapeutic FAP program.
Matelova
Lenka
L
Cancer Research Institute, Slovak Academy of Sciences, Bratislava, Slovakia. lenka.matelova@savba.sk.
Stevurkova
Viola
V
Zajac
Vladimir
V
D011125:Adenomatous Polyposis Coli / Q000453:epidemiology* / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D004247:DNA / Q000096:biosynthesis / Q000235:genetics; D017353:Gene Deletion; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018154:Slovakia / Q000453:epidemiology
D025601:Adenomatous Polyposis Coli Protein; D004247:DNA