title: MAD-related genes on 18q21.1, Smad2 and Smad4, are altered infrequently in esophageal squamous cell carcinoma.
abstract: The MAD (mothers against decapentaplegic)-related genes, Smad2 (former name MADR2 or JV18-1) and Smad4 (former name DPC4), have been identified on chromosome 18q21.1. We analyzed 30 primary esophageal squamous cell carcinomas (ESCC) and 7 cell lines derived from ESCC for intragenic mutations and loss of heterozygosity (LOH) of the Smad2 and Smad4 genes. LOH was detected in 5 of 14 (35%) informative cases. However, no mutations in either gene were detected in either the primary carcinomas or the cell lines, and only a G-to-A base transition within the 3'-untranslated region of the Smad4 gene was observed in a carcinoma. There were no homozygous deletions in either of the genes in the cell lines. MAD-related genes on chromosome 18q21.1 are altered infrequently in ESCC.
authors.affiliation: Department of Pathology, Iwate Medical University School of Medicine, Morioka.
authors.forename: C
authors.initials: C
authors.lastname: Maesawa
authors.forename: G
authors.initials: G
authors.lastname: Tamura
authors.forename: S
authors.initials: S
authors.lastname: Nishizuka
authors.forename: T
authors.initials: T
authors.lastname: Iwaya
authors.forename: S
authors.initials: S
authors.lastname: Ogasawara
authors.forename: K
authors.initials: K
authors.lastname: Ishida
authors.forename: K
authors.initials: K
authors.lastname: Sakata
authors.forename: N
authors.initials: N
authors.lastname: Sato
authors.forename: K
authors.initials: K
authors.lastname: Ikeda
authors.forename: Y
authors.initials: Y
authors.lastname: Kimura
authors.forename: K
authors.initials: K
authors.lastname: Saito
authors.forename: R
authors.initials: R
authors.lastname: Satodate
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D004268:DNA-Binding Proteins / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000235:genetics*; D016147:Genes, Tumor Suppressor; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D051899:Smad2 Protein; D051901:Smad4 Protein; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C497782:SMAD2 protein, human; C497796:SMAD4 protein, human; D051899:Smad2 Protein; D051901:Smad4 Protein; D015534:Trans-Activators