MAD-related genes on 18q21.1, Smad2 and Smad4, are altered infrequently in esophageal squamous cell carcinoma.
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.
Maesawa
C
C
Department of Pathology, Iwate Medical University School of Medicine, Morioka.
Tamura
G
G
Nishizuka
S
S
Iwaya
T
T
Ogasawara
S
S
Ishida
K
K
Sakata
K
K
Sato
N
N
Ikeda
K
K
Kimura
Y
Y
Saito
K
K
Satodate
R
R
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*
D004268:DNA-Binding Proteins; C497782:SMAD2 protein, human; C497796:SMAD4 protein, human; D051899:Smad2 Protein; D051901:Smad4 Protein; D015534:Trans-Activators