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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 publication

DOI

10.18632/oncotarget.370

Type

Journal article

Journal

Oncotarget

Publication Date

12/2011

Volume

2

Pages

966 - 969

Keywords

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