title: Investigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysis.
abstract: OBJECTIVE
  Familial adenomatous polyposis is an autosomal dominant disease characterized by the presence of 100 or more colorectal adenomatous polyps. Mutations in the adenomatous polyposis coli gene are primarily responsible for the development of this disease. This study was designed to investigation of adenomatous polyposis coli (APC) gene mutations in members of familial adenomatous polyposis family to identify individuals at risk of the disease.
  
  
  METHODS
  We examined one patient with familial adenomatous polyposis and 21 family members including one affected person from familial adenomatous polyposis and 20 nonsymptomatic persons. We studied E, D, F, and G segments of exon 15 of the adenomatous polyposis coli gene by heteroduplex analysis.
  
  
  RESULTS
  We used silver staining method for staining. We found a mutation for five persons at segment F of exon 15 of the adenomatous polyposis coli gene. Two of them were affected by colorectal cancer, one of whom was the proband, and the other three were nonsymptomatic family members. The pathogenetic mutation was a T deletion at codon 1172, causing a frameshift in the adenomatous polyposis coli gene, as a result of the sequencing analysis of these cases.
  
  
  CONCLUSIONS
  Investigation of adenomatous polyposis coli gene mutations is very important for the identification of genetic susceptibility to colorectal cancer and for the definition of tumor developing at an early stage. Furthermore, the identification of this mutation for the first time in a Turkish family will be useful to foster further studies on familial adenomatous polyposis in Turkey.
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Uludag University, Bursa, Turkey. btunca@uludag.edu.tr
authors.forename: Berrin
authors.initials: B
authors.lastname: Tunca
authors.forename: Mirco
authors.initials: M
authors.lastname: Menigatti
authors.forename: Piero
authors.initials: P
authors.lastname: Benatti
authors.forename: Unal
authors.initials: U
authors.lastname: Egeli
authors.forename: Gulsah
authors.initials: G
authors.lastname: Cecener
authors.forename: Monica
authors.initials: M
authors.lastname: Pedroni
authors.forename: Alessandra
authors.initials: A
authors.lastname: Scarselli
authors.forename: Francesca
authors.initials: F
authors.lastname: Borghi
authors.forename: Elisa
authors.initials: E
authors.lastname: Sala
authors.forename: Tuncay
authors.initials: T
authors.lastname: Yilmazlar
authors.forename: Abdullah
authors.initials: A
authors.lastname: Zorluoglu
authors.forename: Omer
authors.initials: O
authors.lastname: Yerci
authors.forename: Maurizio Ponz
authors.initials: MP
authors.lastname: de Leon
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D015179:Colorectal Neoplasms / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D020180:Heteroduplex Analysis; D006801:Humans; D008297:Male; D010375:Pedigree; D014421:Turkey