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Ref Type Journal Article
PMID (26791928)
Authors Leung DT, Fuller PJ, Chu S
Title Impact of FOXL2 mutations on signaling in ovarian granulosa cell tumors.
Journal The international journal of biochemistry & cell biology
Vol 72
Issue
Date 2016 Mar
URL
Abstract Text Granulosa cell tumors (GCT) are unique sex-cord stromal tumors which account for ∼ 8% of all ovarian malignancies. They exhibit morphological, biochemical and hormonal features similar to proliferating granulosa cells of the preovulatory follicle, including estrogen and inhibin synthesis. A somatic missense mutation in the forkhead box L2 (FOXL2) gene (C134W) is unique to adult GCT, and absent in other ovarian cancers. FOXL2 is a transcription factor that plays a critical role in ovarian function, in particular, proliferation and differentiation of granulosa cells. The molecular mechanisms underlying the pathogenicity of the mutant FOXL2 remain unresolved. Here we review the molecular alterations known to be associated with mutant FOXL2 and the potential signaling implications. Several studies suggest that dysregulated FOXL2 function may alter cell cycle progression and apoptosis. Further insights into the molecular mechanism of GCT pathophysiology may identify therapeutic targets for the treatment of these tumors.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FOXL2 C134W granulosa cell tumor not applicable N/A Preclinical Diagnostic FOXL2 C134W mutations are used in the diagnosis of adult granulosa cell tumors of the ovary (PMID: 26791928, PMID: 22240241). 26791928 22240241