Article
Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas.
The Journal of clinical investigation - 1 Sept 2016
Calebiro Davide, Grassi Elisa S, Eszlinger Markus, Ronchi Cristina L, Godbole Amod, Bathon Kerstin, Guizzardi Fabiana, de Filippis Tiziana, Krohn Knut, Jaeschke Holger, Schwarzmayr Thomas, Bircan Rifat, Gozu Hulya Iliksu, Sancak Seda, Niedziela Marek, Strom Tim M, Fassnacht Martin, Persani Luca, Paschke Ralf
Abstract excerpt
Autonomous thyroid adenomas (ATAs) are a frequent cause of hyperthyroidism. Mutations in the genes encoding the TSH receptor (TSHR) or the Gs protein α subunit (GNAS) are found in approximately 70% of ATAs. The involvement of other genes and the pathogenesis of the remaining cases are presently unknown. Here, we performed whole-exome sequencing in 19 ATAs that were paired with normal DNA samples and identified a...
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