title: Mutational analysis of the CTNNB1 (beta-catenin) gene in human endometrial cancer: frequent mutations at codon 34 that cause nuclear accumulation.
abstract: Recently, CTNNB1 (beta-catenin) has been found to function as an oncoprotein that works in the Wnt signaling pathway, and mutation of this gene has been reported in various human cancers. In this study, we analyzed 44 endometrial cancers and found somatic missense mutations in five (11%) tumors. Interestingly, four (80%) of the five tumors with mutations would cause amino acid alterations at residues next to Ser 33, one of the targets for phosphorylation of glycogen synthase kinase (GSK)-3beta. The tumors with mutations showed accumulation of the CTNNB1 protein in cytoplasm and nucleus. This is the first report of frequent somatic mutation of the CTNNB1 gene at codons adjacent to those encoding to Ser/Thr residues in endometrial cancer.
authors.affiliation: Department of Molecular Pathology, Tohoku University School of Medicine, Sendai 980-8575, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ikeda
authors.forename: K
authors.initials: K
authors.lastname: Yoshinaga
authors.forename: S
authors.initials: S
authors.lastname: Semba
authors.forename: E
authors.initials: E
authors.lastname: Kondo
authors.forename: H
authors.initials: H
authors.lastname: Ohmori
authors.forename: A
authors.initials: A
authors.lastname: Horii
mesh_terms: D002467:Cell Nucleus / Q000378:metabolism; D003062:Codon; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D015534:Trans-Activators; D014407:Tumor Cells, Cultured; D051176:beta Catenin
chemical_list: C495270:CTNNB1 protein, human; D003062:Codon; D003598:Cytoskeletal Proteins; D015534:Trans-Activators; D051176:beta Catenin