Article
The Oncogenic FOXL2 C134W Mutation Is a Key Driver of Granulosa Cell Tumors.
Cancer research - 18 Jan 2023
Llano Elena, Todeschini Anne Laure, Felipe-Medina Natalia, Corte-Torres María D, Condezo Yazmine B, Sanchez-Martin Manuel, López-Tamargo Sara, Astudillo Aurora, Puente Xose S, Pendas Alberto M, Veitia Reiner A
Abstract excerpt
Adult-type granulosa cell tumors (AGCT) are the most common type of malignant ovarian sex cord-stromal tumors. Most AGCTs carry the somatic variant c.402C>G (p.C134W) affecting the transcription factor FOXL2. Germline dominant variants in FOXL2 are responsible for blepharophimosis syndrome, which is characterized by underdevelopment of the eyelid. In this work, we generated a mouse model harboring the C134W...
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