Mutation analysis of transforming growth factor β type II receptor, Smad2, Smad3 and Smad4 in esophageal squamous cell carcinoma

Mutations df the transforming growth factor beta type II receptor (TGF beta RII) 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 TGF beta RII, 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 TGF beta RII, Smad2, Smad3 and Smad4 genes. These results suggest that mutation of TGF beta RII, Smad2, Smad3 and Smad4 genes is a rare event in ESCC.