Mutation Detection in the TGF Receptors and SMAD Genes: RT-PCR and Sequencing

The transforming growth factor-β (TGF-β) pathway is important in the growth control of many different cell types, particularly epithelial cells, and is often disrupted in the development of several different types of cancer. Many tumor cell lines are resistant to the growth suppressive effects of TGF-β (1 –3 ). In some tumors, this resistance the result of mutations in the TGF-β receptors or the smad family of downstream TGF-β signaling proteins (4 –8 ). The purpose of this chapter is to give this laboratory’s current protocols for mutation detection in the TGF-β receptors and the smad genes.