title: The mutation spectrum of the APC gene in Turkish patients with familial adenomatous polyposis.
abstract: OBJECTIVE
  Familial adenomatous polyposis, an autosomal-dominant disease characterized by the presence of 100 or more colorectal adenomatous polyps, results from mutations in the adenomatous polyposis coli tumor suppressor gene. This study was designed to investigate adenomatous polyposis coli gene mutations in members of Turkish families with familial adenomatous polyposis to constitute an adenomatous polyposis coli mutation spectrum for the Turkish population and to determine specific biomarkers for use in the early diagnosis of familial adenomatous polyposis.
  
  
  METHODS
  We investigated adenomatous polyposis coli gene mutations in six unrelated families with familial adenomatous polyposis by using heteroduplex analysis and DNA sequencing.
  
  
  RESULTS
  We identified three different mutations in six families. Of these one is known and two are novel: 1018T>C and 1309delGAAAA. The mutation of a T to C transversion at codon 1018 does not cause an alteration in the meaning of the codon; however, it was determined that this silent mutation does cause the formation of new exonic splicing enhancers (ESEs) motifs on a mutated sequence by using ESEfinder program.
  
  
  CONCLUSIONS
  This study contributes to enlarging the adenomatous polyposis coli gene mutations spectrum and to defining new biomarkers for the early diagnosis of Turkish patients with familial adenomatous polyposis.
authors: Department of Medical Biology, Faculty of Medicine, Uludag University, Bursa, Turkey. btunca@uludag.edu.tr
authors: Berrin
authors: B
authors: Tunca
authors: Gulsah
authors: G
authors: Cecener
authors: Unal
authors: U
authors: Egeli
authors: Abdullah
authors: A
authors: Zorluoglu
authors: Tuncay
authors: T
authors: Yilmazlar
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics*; D001241:Aspirin; D014408:Biomarkers, Tumor / Q000032:analysis; D002110:Caffeine; D003975:Diazepam; D004087:Dihydroergotamine; D004338:Drug Combinations; D017353:Gene Deletion; D017491:Genes, APC / Q000502:physiology*; D020180:Heteroduplex Analysis; D006801:Humans; D010375:Pedigree; D017422:Sequence Analysis, DNA; D014421:Turkey
chemical_list: D014408:Biomarkers, Tumor; D004338:Drug Combinations; D002110:Caffeine; D004087:Dihydroergotamine; C019087:Silentan; D003975:Diazepam; D001241:Aspirin