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BackgroundGenetic 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.MethodsWe 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.ResultFive 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.ConclusionA 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.

Original publication




Journal article


Asian Pacific journal of cancer prevention : APJCP

Publication Date





5101 - 5104


Department of Medicine, Chulalongkorn University, Bangkok, Thailand.


Humans, Adenomatous Polyposis Coli, Colonic Neoplasms, Adenomatous Polyposis Coli Protein, Neoplasm Staging, Prognosis, Follow-Up Studies, Pedigree, DNA Mutational Analysis, Phenotype, Mutation, Adolescent, Adult, Aged, Middle Aged, Female, Male, Young Adult, Genetic Testing