Article
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
British journal of cancer - 14 Jun 2016
Kämpjärvi Kati, Mäkinen Netta, Mehine Miika, Välipakka Salla, Uimari Outi, Pitkänen Esa, Heinonen Hanna-Riikka, Heikkinen Tuomas, Tolvanen Jaana, Ahtikoski Anne, Frizzell Norma, Sarvilinna Nanna, Sjöberg Jari, Bützow Ralf, Aaltonen Lauri A, Vahteristo Pia
Abstract excerpt
BACKGROUND: Uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer (HLRCC) patients are driven by fumarate hydratase (FH) inactivation or occasionally by mediator complex subunit 12 (MED12) mutations. The aim of this study was to analyse whether MED12 mutations and FH inactivation are mutually exclusive and to determine the contribution of MED12 mutations on HLRCC patients' myomagenesis. METHODS:...
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