title: The spectrum of the APC pathogenic mutations in Slovak FAP patients.
abstract: 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.
authors.affiliation: Cancer Research Institute, Slovak Academy of Sciences, Bratislava, Slovakia. lenka.matelova@savba.sk.
authors.forename: Lenka
authors.initials: L
authors.lastname: Matelova
authors.forename: Viola
authors.initials: V
authors.lastname: Stevurkova
authors.forename: Vladimir
authors.initials: V
authors.lastname: Zajac
mesh_terms: 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
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D004247:DNA