Abstract
The MAD (mothers against decapentaplegic)‐related genes, Smad2 (former name MA DR2 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.
Keywords: Smad2, Smad4, Mutation, Esophageal carcinoma, TGFβ
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