title: MED12 mutation frequency in unselected sporadic uterine leiomyomas.
abstract: OBJECTIVE
  To determine the frequency of mediator complex subunit 12 (MED12) mutations in well-documented, prospectively collected, unselected series of sporadic uterine leiomyomas to better understand the contribution of MED12 mutations in leiomyoma genesis.
  
  
  METHODS
  Mutation analysis of two prospectively collected sample series.
  
  
  METHODS
  Department of gynecology in university hospital and medical genetics research laboratory.
  
  
  METHODS
  164 uterine leiomyomas from 28 patients (13 consecutive and 15 unselected patients) undergoing hysterectomy.
  
  
  METHODS
  MED12 mutation screening by direct sequencing, and clinical data collection.
  
  
  METHODS
  MED12 mutation status and various clinical variables.
  
  
  RESULTS
  MED12 mutations were found in 73 (83.0%) of 88 and 65 (85.5%) of 76 of uterine leiomyomas from the consecutive and unselected patient series, respectively. Smaller tumor size and a larger number of tumors correlated with positive MED12 mutation status.
  
  
  CONCLUSIONS
  The frequency of MED12 mutations in our prospectively collected uterine leiomyoma sets was higher than in previous works. This is in keeping with the concept that MED12 mutation-positive tumors tend to be smaller in size than MED12 mutation-negative tumors. The results highlight the central role of MED12 mutations in uterine leiomyoma genesis.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
authors.forename: Hanna-Riikka
authors.initials: HR
authors.lastname: Heinonen
authors.affiliation: Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland; Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland; Institute of Biomedicine, Biochemistry and Developmental Biology, University of Helsinki, Helsinki, Finland.
authors.forename: Nanna S
authors.initials: NS
authors.lastname: Sarvilinna
authors.affiliation: Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: Jari
authors.initials: J
authors.lastname: Sjöberg
authors.affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
authors.forename: Kati
authors.initials: K
authors.lastname: Kämpjärvi
authors.affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
authors.forename: Esa
authors.initials: E
authors.lastname: Pitkänen
authors.affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
authors.forename: Pia
authors.initials: P
authors.lastname: Vahteristo
authors.affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
authors.forename: Netta
authors.initials: N
authors.lastname: Mäkinen
authors.affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland; Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland. Electronic address: lauri.aaltonen@helsinki.fi.
authors.forename: Lauri A
authors.initials: LA
authors.lastname: Aaltonen
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006785:Hospitals, University; D006801:Humans; D007889:Leiomyoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D056892:Mediator Complex / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011446:Prospective Studies; D012307:Risk Factors; D014594:Uterine Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex
keywords: Fibroids; MED12; genetics; uterine leiomyomas