title: Mutation analysis of components of the Mediator kinase module in MED12 mutation-negative uterine leiomyomas.
abstract: BACKGROUND
  Kinase module of Mediator complex ('CDK8 submodule') consists of four subunits: CDK8, Cyclin C, MED12, and MED13. Recently, we reported recurrent MED12 mutations in 70% of uterine leiomyomas. The aim of this study was to analyse whether mutations in other components of the module contribute to the development of these lesions.
  
  
  METHODS
  Mutation screening of altogether 70 MED12 mutation-negative uterine leiomyomas was carried out by direct sequencing.
  
  
  RESULTS
  None of the tumours displayed somatic mutations in the coding regions of CDK8/CDK19, CCNC, or MED13.
  
  
  CONCLUSIONS
  Mutations in CDK8/CDK19, CCNC, and MED13 do not frequently contribute to genesis of uterine leiomyomas.
authors.affiliation: Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, PO Box 63, 00014 Helsinki, Finland.
authors.forename: N
authors.initials: N
authors.lastname: Mäkinen
authors.affiliation: Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, PO Box 63, 00014 Helsinki, Finland.
authors.forename: H-R
authors.initials: HR
authors.lastname: Heinonen
authors.affiliation: Department of Obstetrics and Gynecology, Helsinki University Central Hospital, PO Box 140, 00029 Helsinki, Finland.
authors.forename: J
authors.initials: J
authors.lastname: Sjöberg
authors.affiliation: 1] Genome-Scale Biology Research Program and Department of Pathology, Haartman Institute, University of Helsinki, PO Box 63, 00014 Helsinki, Finland [2] Science for Life Laboratory, Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.
authors.forename: J
authors.initials: J
authors.lastname: Taipale
authors.affiliation: Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, PO Box 63, 00014 Helsinki, Finland.
authors.forename: P
authors.initials: P
authors.lastname: Vahteristo
authors.affiliation: Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, PO Box 63, 00014 Helsinki, Finland.
authors.forename: L A
authors.initials: LA
authors.lastname: Aaltonen
mesh_terms: D056745:Cyclin C / Q000235:genetics; D056850:Cyclin-Dependent Kinase 8 / Q000235:genetics; D018844:Cyclin-Dependent Kinases / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007889:Leiomyoma / Q000235:genetics*; D056892:Mediator Complex / Q000235:genetics*; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: C503674:CCNC protein, human; D056745:Cyclin C; C460107:MED12 protein, human; C488666:MED13 protein, human; D056892:Mediator Complex; C584437:CDK19 protein, human; C095686:CDK8 protein, human; D056850:Cyclin-Dependent Kinase 8; D018844:Cyclin-Dependent Kinases