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FOXL2
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FOXL2 C134W
GeneFOXL2
Variantmissense
Amino Acid ChangeC134W
DNA Change (Coding Nucleotide)402C>G
Transcript ID (GRCh37/hg19)ENST00000330315
Codon134
Exon1
Genomic Coordinates (GRCh37/hg19)3:138665163-138665163
COSMIC ID33661
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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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.

Last updated: 2017-03-12 22:47:13 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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