MED12 exon 2 mutations are common in uterine leiomyomas from South African patients

Netta Mäkinen, Hanna-Riikka Heinonen, Shane Moore, Ian P M Tomlinson, Zephne M van der Spuy, Lauri A Aaltonen

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)966-9
Number of pages4
Issue number12
Publication statusPublished - Dec 2011


  • Adult
  • African Continental Ancestry Group/genetics
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Humans
  • Leiomyoma/genetics
  • Mediator Complex/genetics
  • Middle Aged
  • Mutation
  • South Africa
  • Uterine Neoplasms/genetics


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