title: Mutation assay of the novel gene DOG1 in gastrointestinal stromal tumors (GISTs).
abstract: BACKGROUND
  Recently, the novel gene DOG1 has been found to be overexpressed in most gastrointestinal stromal tumors (GISTs) specifically within the field of soft tissue tumors. DOG1 might play a role in development of GISTs and have potential as a diagnostic marker and therapeutic target, but the biological function and the overexpression mechanism have not yet been investigated. In this study we examined whether the DOG1 gene mutation occurs as with the KIT gene and PDGFRA gene.
  
  
  METHODS
  We investigated ten resected primary GIST tissues. All cases were examined for immunoreactivity for KIT and DOG1 and screened for mutation in the KIT gene (exons 9, 11, 13, and 17) and the PDGFRA gene (exons 12, 14, and 18) by direct DNA sequencing. Four cases with relatively good quality DNA were analyzed for the DOG1 gene (exons 1-26) mutation.
  
  
  RESULTS
  All ten GISTs showed immunoreactivity for KIT. Although all cases expressed DOG1 in immunohistochemistry, we could not find any mutations within all 26 exons (a total of 104 exons) of the DOG1 gene in the four analyzed cases.
  
  
  CONCLUSIONS
  Based on four cases, the DOG1 gene was found not to be mutated in GISTs.
authors.affiliation: Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, 2630 Sugitani, Toyama 930-0194, Japan.
authors.forename: Shigeharu
authors.initials: S
authors.lastname: Miwa
authors.forename: Takahiko
authors.initials: T
authors.lastname: Nakajima
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Murai
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Takano
authors.forename: Toshiro
authors.initials: T
authors.lastname: Sugiyama
mesh_terms: D000075369:Anoctamin-1; D018118:Chloride Channels; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics / Q000378:metabolism; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: C476213:ANO1 protein, human; D000075369:Anoctamin-1; D018118:Chloride Channels; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha