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

Netta Mäkinen; Hanna-Riikka Heinonen; Shane Moore; Ian Tomlinson; Zephne van der Spuy; Lauri Aaltonen

doi:10.18632/oncotarget.370

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Brief Reports:

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

Netta Mäkinen, Hanna-Riikka Heinonen, Shane Moore, Ian Tomlinson, Zephne van der Spuy and Lauri Aaltonen _

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Oncotarget. 2011; 2:966-969. https://doi.org/10.18632/oncotarget.370

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Abstract

Netta Mäkinen¹, Hanna-Riikka Heinonen¹, Shane Moore², Ian P.M. Tomlinson³, Zephne M. van der Spuy², and Lauri A. Aaltonen¹

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

Correspondence:

Lauri A. Aaltonen, email:

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.

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Brief Reports:

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

Abstract