title: Mutation of the transforming growth factor-beta type II receptor gene is a rare event in human sporadic gastric carcinomas.
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.
authors.affiliation: First Department of Pathology, Hiroshima University School of Medicine, Hiroshima 734-8551, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Shitara
authors.forename: H
authors.initials: H
authors.lastname: Yokozaki
authors.forename: W
authors.initials: W
authors.lastname: Yasui
authors.forename: S
authors.initials: S
authors.lastname: Takenoshita
authors.forename: Y
authors.initials: Y
authors.lastname: Nagamachi
authors.forename: E
authors.initials: E
authors.lastname: Tahara
mesh_terms: D017931:DNA Primers; D005091:Exons; D016368:Frameshift Mutation; D014644:Genetic Variation; D006801:Humans; D007438:Introns; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D013274:Stomach Neoplasms / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D017931:DNA Primers; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II