MED12 mutations in leiomyosarcoma and extrauterine leiomyoma

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Preoperative Diagnosis of Usual Leiomyoma, Atypical Leiomyoma, and Leiomyosarcoma

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Missense mutations in exon 2 of the MED12 gene are involved in IGF-2 overexpression in uterine leiomyoma.

Uterine leiomyoma (UL), the most common benign tumour found in females, is associated with many recurrent genetic aberrations, such as translocations, interstitial deletions and specific germline mutations. Among these, mutations affecting exon 2 of the mediator complex subunit 12 (MED12) gene are commonly detected in the majority of ULs. Mutational analysis of the MED12 gene, performed on 36 U...

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ژورنال

عنوان ژورنال: Modern Pathology

سال: 2012

ISSN: 0893-3952,1530-0285

DOI: 10.1038/modpathol.2012.203