MED12 exon 2 mutations are common in uterine leiomyomas from South African patients
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1 Department of Medical Genetics, Genome-Scale Biology Research Program, University of Helsinki, Helsinki, Finland
2 Department of Obstetrics and Gynaecology, Faculty of Health Sciences, University of Cape Town, South Africa
3 Wellcome Trust Centre for Human Genetics and NIHR Comprehensive Biomedical Research Centre, Nuffield Department of Clinical Medicine, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK
Received: November 30, 2011; Accepted: December 9, 2011; Published: December 19, 2011;
Keywords:Uterine leiomyoma, fibroid, MED12, ethnicity
Lauri A. Aaltonen, email:
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.
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