title: MED12 exon 2 mutations are common in uterine leiomyomas from South African patients.
abstract: Uterine leiomyomas, or fibroids, are extremely common tumors. Regardless of their benign nature, fibroids can cause considerable morbidity. Women with African ancestry have a threefold increased risk of developing uterine leiomyomas with a greater symptom severity when compared to white women. Recently, we demonstrated that exon 2 of the MED12 gene is somatically altered in up to 70 per cent of uterine leiomyomas in a series of Finnish (Caucasian) patients. To validate these results in other populations, we sequenced a set of 28 uterine leiomyomas for MED12 exon 2 mutations from 18 different Black African or Coloured South African patients. We observed 14 mutation positive lesions (50%). When corrected by tumor size, these results are very similar to those derived in the Finnish material. This study confirms a major role of MED12 in the genesis of leiomyomas, regardless of ethnicity.
authors.affiliation: Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland.
authors.forename: Netta
authors.initials: N
authors.lastname: Mäkinen
authors.forename: Hanna-Riikka
authors.initials: HR
authors.lastname: Heinonen
authors.forename: Shane
authors.initials: S
authors.lastname: Moore
authors.forename: Ian P M
authors.initials: IP
authors.lastname: Tomlinson
authors.forename: Zephne M
authors.initials: ZM
authors.lastname: van der Spuy
authors.forename: Lauri A
authors.initials: LA
authors.lastname: Aaltonen
mesh_terms: D000328:Adult; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007889:Leiomyoma / Q000235:genetics*; D056892:Mediator Complex / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D013019:South Africa; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: C460107:MED12 protein, human; D056892:Mediator Complex