Abstract
Mutations of the transforming growth factor beta type II receptor (TGFbetaRII) gene and Smad family genes have been observed in several human cancers. However, there has been no report on mutation analysis of the entire coding regions of these genes in esophageal cancer, and the role of these genes in the development of esophageal cancer remains unknown. We performed polymerase chain reaction-single strand conformation polymorphism analysis of TGFbetaRII, Smad2, Smad3 and Smad4 genes and microsatellite assay in 20 esophageal squamous cell carcinomas (ESCC). We detected polymorphisms at exon 2 of Smad3 and intron 6 of Smad4. No mutation was found in TGFbetaRII, Smad2, Smad3 and Smad4 genes. These results suggest that mutation of TGFbetaRII, Smad2, Smad3 and Smad4 genes is a rare event in ESCC.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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Carcinoma, Squamous Cell / genetics
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Carcinoma, Squamous Cell / pathology*
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DNA Mutational Analysis
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DNA, Neoplasm / chemistry
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DNA, Neoplasm / genetics
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DNA-Binding Proteins / genetics
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Esophageal Neoplasms / genetics
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Esophageal Neoplasms / pathology*
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Female
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Genes / genetics*
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Humans
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Loss of Heterozygosity
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Male
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Microsatellite Repeats
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Mutation
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Polymorphism, Single-Stranded Conformational
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Protein Serine-Threonine Kinases
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Receptor, Transforming Growth Factor-beta Type II
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Receptors, Transforming Growth Factor beta / genetics
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Smad2 Protein
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Smad3 Protein
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Smad4 Protein
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Trans-Activators / genetics
Substances
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DNA, Neoplasm
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DNA-Binding Proteins
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Receptors, Transforming Growth Factor beta
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SMAD2 protein, human
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SMAD3 protein, human
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SMAD4 protein, human
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Smad2 Protein
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Smad3 Protein
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Smad4 Protein
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Trans-Activators
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Protein Serine-Threonine Kinases
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Receptor, Transforming Growth Factor-beta Type II