Mutation of the transforming growth factor-beta type II receptor gene is a rare event in human sporadic gastric carcinomas

Int J Oncol. 1998 May;12(5):1061-5. doi: 10.3892/ijo.12.5.1061.

Abstract

Mutations of the transforming growth factor-beta type II receptor (TGF-beta RII) gene have been detected in several human cancers. However, mutation analysis of coding sequences of TGF-beta RII in gastric carcinomas has not yet been fully elucidated. We performed PCR-SSCP analysis and direct DNA sequencing of the entire coding region of TGF- RII in 38 human sporadic gastric cancers and 8 gastric cancer cell lines. Mutations of the TGF-beta RII were detected in two tumors and three cell lines. Two tumors had one base deletion in the polyadenine tract in exon 3, the cystein-rich extracellular domain. Three cell lines had a silent mutation in the kinase domain located in exon 4. Polymorphisms were detected in introns 2 and 3. An a/g polymorphism was observed at the seventh base in intron 2 and an a/t polymorphism was observed at the fourth to last base in intron 3. There were no mutations in exons 1, 2, 5, 6 and 7. These results indicate that the polyadenine tract in the TGF-beta RII is a mutational hot spot in human gastric cancer. However, these results also suggest that mutations of the gene are rare events in human sporadic gastric cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Primers
  • Exons
  • Frameshift Mutation*
  • Genetic Variation
  • Humans
  • Introns
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Single-Stranded Conformational
  • Protein-Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics*
  • Stomach Neoplasms / genetics*
  • Tumor Cells, Cultured

Substances

  • DNA Primers
  • Receptors, Transforming Growth Factor beta
  • Protein-Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II