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FOXL2
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Interpretation 396
Tier 2
FOXL2
Variants
FOXL2 C134W
Primary Sites
Ovary
Tumor Types
Sex Cord Stromal Tumor
Interpretation

The FOXL2 gene resides on chromosome band 3q22.3 and encodes forkhead box protein L2, a forkhead-winged helix family transcription factor that is expressed in the eyelid and gonad during embryogenesis and actively maintains ovarian follicles during adulthood. A somatic missense mutation in FOXL2 (p.C134W; c.402C>G) is identified in 97% of adult granulosa cell tumor, and absent in other ovarian cancers. The prognosis and target treatment in regard of FOXL2 mutation is unknown.

Citations
  1. Geiersbach KB, et al. FOXL2 mutation and large-scale genomic imbalances in adult granulosa cell tumors of the ovary. Cancer Genet 2011;204(11):596-602
  2. Leung DT, et al. Impact of FOXL2 mutations on signaling in ovarian granulosa cell tumors. Int J Biochem Cell Biol 2016;72():51-4
Last updated: 2017-03-12 22:47:13 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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