title: Mutations in beta-catenin and APC genes are uncommon in esophageal and esophagogastric junction adenocarcinomas.
abstract: Beta-catenin plays important roles in both intercellular adhesion and signal transduction. Mutations in the beta-catenin or adenomatous polyposis coli (APC) gene can alter the degradation of beta-catenin and cause aberrant accumulation of beta-catenin result in increased transcription of target genes. The dysregulated APC/beta-catenin pathway has been recently discovered as an important mechanism of tumorigenesis in various cancers, but its role in esophageal adenocarcinomas is not clear. Therefore, we studied the beta-catenin gene mutation, allelic loss of chromosome 5q, and APC gene mutation in esophageal and esophagogastric junction adenocarcinomas. Two (2%) somatic mutations in exon 3 of the beta-catenin gene, encompassing the region for glycogen synthase kinase-3beta phosphorylation, were detected from 109 adenocarcinomas. Chromosomal allelic loss on 5q was frequent in 45.3% (44/97) of tumors. Only one missense mutation in the mutation cluster region of the APC gene was detected from 38 esophageal and esophagogastric junction adenocarcinomas with the 5q allelic loss. Our results based on partial screening mutational analyses indicate that mutations of APC/beta-catenin pathway, unlike in colorectal carcinoma, involve only a small subset of esophageal and esophagogastric junction adenocarcinoma.
authors.affiliation: Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205-2196, USA.
authors.forename: Y W
authors.initials: YW
authors.lastname: Choi
authors.forename: E I
authors.initials: EI
authors.lastname: Heath
authors.forename: R
authors.initials: R
authors.lastname: Heitmiller
authors.forename: A A
authors.initials: AA
authors.lastname: Forastiere
authors.forename: T T
authors.initials: TT
authors.lastname: Wu
mesh_terms: D000230:Adenocarcinoma / Q000737:chemistry / Q000235:genetics* / Q000473:pathology; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000032:analysis; D004210:Dissection; D004938:Esophageal Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology; D004943:Esophagogastric Junction / Q000473:pathology*; D017491:Genes, APC / Q000235:genetics*; D006801:Humans; D019656:Loss of Heterozygosity; D008846:Micromanipulation; D009154:Mutation; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D015534:Trans-Activators; D051176:beta Catenin
chemical_list: C495270:CTNNB1 protein, human; D003598:Cytoskeletal Proteins; D017931:DNA Primers; D004273:DNA, Neoplasm; D015534:Trans-Activators; D051176:beta Catenin