title: A large deletion of chromosome 5q22.1-22.2 associated with sparse type of familial adenomatous polyposis: report of a case.
abstract: The proband was a 32-year-old man with sparse type of familial adenomatous polyposis with fundic gland and duodenal polyps and congenital hypertrophy of the retinal pigment epithelium without osteoma, dental abnormalities and desmoid tumors. Direct DNA sequencing did not detect germline mutations in any APC exon. However, using the multiplex ligation-dependent probe amplification method, we detected germline deletions of all APC exons. Using dual-color fluorescence in situ hybridization, we identified germline deletion of locus 5q22.1-22.2 that includes APC. Analysis of colorectal tumors identified somatic APC mutations in the cluster region in all polyps, but no loss of heterozygosity was detected in any polyp.
authors.affiliation: Hereditary Tumor Research Project, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo tatsuro@yamaguchi.e-mail.ne.jp.
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Yamaguchi
authors.affiliation: Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo.
authors.forename: Koichi
authors.initials: K
authors.lastname: Koizumi
authors.affiliation: Clinical Genetic Oncology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, Tokyo.
authors.forename: Masami
authors.initials: M
authors.lastname: Arai
authors.affiliation: Major in Science, Graduate School of Science and Engineering Research, Kinki University, Higashiosaka.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Tamura
authors.affiliation: Hereditary Tumor Research Project, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo.
authors.forename: Takeru
authors.initials: T
authors.lastname: Iijima
authors.affiliation: Department of Pathology, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan.
authors.forename: Shin-Ichiro
authors.initials: S
authors.lastname: Horiguchi
authors.affiliation: Hereditary Tumor Research Project, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo.
authors.forename: Michiko
authors.initials: M
authors.lastname: Miyaki
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010375:Pedigree
keywords: APC gene; chromosome 5q22; familial adenomatous polyposis; large genomic deletion