title: [A family with attenuated familial adenomatous polyposis identified because of fundic gland polyposis].
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.
authors.affiliation: Department of Gastroenterology, University of Yamanashi, Faculty of Medicine, Kofu Kyoritsu Hospital. mohtaka@yamanashi.ac.jp
authors.forename: Masahiko
authors.initials: M
authors.lastname: Ohtaka
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Iwamoto
authors.forename: Mika
authors.initials: M
authors.lastname: Miura
authors.forename: Akira
authors.initials: A
authors.lastname: Matsui
authors.forename: Hiroko
authors.initials: H
authors.lastname: Shindo
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: Tomoyoshi
authors.initials: T
authors.lastname: Uetake
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ohtsuka
authors.forename: Tadashi
authors.initials: T
authors.lastname: Sato
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Enomoto
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Murakami
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Yasuda
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005748:Gastric Fundus; D017491:Genes, APC; D006801:Humans; D008297:Male; D010375:Pedigree; D011127:Polyps / Q000175:diagnosis*; D013272:Stomach Diseases / Q000175:diagnosis*