[A family with attenuated familial adenomatous polyposis identified because of fundic gland polyposis]

Nihon Shokakibyo Gakkai Zasshi. 2011 Jun;108(6):945-53.
[Article in Japanese]

Abstract

We report a 41-year-old woman who had fundic gland polyposis without a colorectal polyp. Because her father had colon cancer, multiple colorectal polyps and the gastric polyposis, we suspected AFAP and researched the APC gene. There was 1 base pair deletion of guanine at codon 99-100 in exon 3 of the APC gene, and its frame shift mutation made stop codon at codon 124. It was proved that the gene carrier of AFAP can be discovered based on the family-history and the presence of fundic gland polyposis, even when no colorectal polyps exist.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Gastric Fundus*
  • Genes, APC
  • Humans
  • Male
  • Pedigree
  • Polyps / diagnosis*
  • Stomach Diseases / diagnosis*

Supplementary concepts

  • Attenuated familial adenomatous polyposis