Mutation analysis of transforming growth factor beta type II receptor, Smad2, and Smad4 in hepatocellular carcinoma

Mutations in the transforming growth factor beta type II receptor (TGF beta RII), Smad2, and Smad4 genes have been detected in several human cancers. However, there are no reports of mutation analysis of the entire coding reg ions in these genes in hepatocellular carcinoma, and the roles of these gen es in hepatocarcinogenesis remain unknown. We screened 30 hepatocellular ca rcinomas for mutations of these genes using polymerase chain reaction singl e-strand conformation polymorphism. We detected no mutations, but did find 3 cases of loss of heterozygosity of chromosome 17p13.1. These results sugg est that mutations of the TGF beta RII, Smad2, and Smad4 genes are rare, an d that genetic instability is uncommon in human hepatocellular carcinoma.