title: Somatic mutations of the first 14 exons of APC in hamartomatous polyps of the colon.
abstract: Although hamartomatous or hyperplastic polyps are rarely accompanied by adenomatous or carcinomatous foci, the role of APC (MIM# 175100) mutations in these polyps is not clear. The neoplastic potential of these polyps was assessed with regard to somatic mutation of the first 14 exons of APC. DNA from 14 hamartomatous polyps (12 patients with juvenile polyp, JP; two patients with Peutz-Jeghers syndrome, PJS) and 27 hyperplastic polyps was used. Exons 1-14 of APC were amplified using verified oligonucleotide primers, and PCR-SSCP analysis was performed. Translation-terminating mutation in exon 15 was also screened using the protein truncation test. All mutations found were transitions or transversions with heterozygous alleles of both wild-type and mutant APC in exons 2, 9, 10, and 11. Four hamartomatous polyps (three from JP and one from PJS) showed seven, new mutations and one common APC variant (codon 486), whereas no hyperplastic polyps demonstrated mutation. APC mutation was not correlated with previous history of colorectal carcinoma or number of polyps. Since all mutations were missense or silent mutations occurred in exons not previously known to have functionally relevant area, their phenotypic implication appeared to be limited.
authors.affiliation: Laboratory of Gastrointestinal Cancer Biology and Genetics, Department of Surgery,University of Ulsan College of Medicine and Asan Institute for Life Sciences, 388-1 Poongnap-Dong, Songpa-Ku, Seoul, Korea. jckim@www.amc.seoul.kr
authors.forename: J C
authors.initials: JC
authors.lastname: Kim
authors.forename: S A
authors.initials: SA
authors.lastname: Roh
authors.forename: H C
authors.initials: HC
authors.lastname: Kim
authors.forename: C S
authors.initials: CS
authors.lastname: Yu
authors.forename: D H
authors.initials: DH
authors.lastname: Lee
authors.forename: B Y
authors.initials: BY
authors.lastname: Ahn
authors.forename: K M
authors.initials: KM
authors.lastname: Kim
authors.forename: S K
authors.initials: SK
authors.lastname: Yang
authors.forename: G H
authors.initials: GH
authors.lastname: Kang
authors.forename: N E
authors.initials: NE
authors.lastname: Beck
authors.forename: W F
authors.initials: WF
authors.lastname: Bodmer
mesh_terms: D003111:Colonic Polyps / Q000235:genetics*; D017491:Genes, APC / Q000235:genetics*; D006222:Hamartoma / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational