title: Colon cancer prevention by detection of APC gene mutation in a family with attenuated familial adenomatous polyposis.
abstract: BACKGROUND
  Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene.
  
  
  METHODS
  We analyzed 20 members of a family with AFAP. Clinical and endoscopic data were collected for phenotype determination. Genetic analysis was also performed by direct sequencing of the APC gene.
  
  
  RESULTS
  Five patients with a phenotype of AFAP were found. Endoscopic polyposis was demonstrated among the second generation with genotype mutation of the disease (age > 50 years) consistent with delayed phenotypic adenomatous polyposis in AFAP. APC gene mutation was identified in exon 4 of the APC gene, with mutation points of c.481C>T p.Q161X. Laparoscopic subtotal colectomy was performed to prevent carcinogenesis.
  
  
  CONCLUSIONS
  A family with attenuated familial adenomatous polyposis of APC related to exon 4 mutation, c.481C>T p.Q161X, was reported and the phenotypic finding was confirmed by endoscopic examination. Genetic mutation analysis might be advantageous in AFAP for long term colon cancer prevention and management due to subtle or asymptomatic phenotype presentation in early adulthood.
authors.affiliation: Department of Medicine, Chulalongkorn University, Bangkok, Thailand.
authors.forename: Kittiyod
authors.initials: K
authors.lastname: Poovorawan
authors.forename: Sirinporn
authors.initials: S
authors.lastname: Suksawatamnuay
authors.forename: Chucheep
authors.initials: C
authors.lastname: Sahakitrungruang
authors.forename: Sombat
authors.initials: S
authors.lastname: Treeprasertsuk
authors.forename: Naruemon
authors.initials: N
authors.lastname: Wisedopas
authors.forename: Piyawat
authors.initials: P
authors.lastname: Komolmit
authors.forename: Yong
authors.initials: Y
authors.lastname: Poovorawan
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D003110:Colonic Neoplasms / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009367:Neoplasm Staging; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D055815:Young Adult
chemical_list: D025601:Adenomatous Polyposis Coli Protein