Gene | FOXL2 |
Variant | missense |
Amino Acid Change | C134W |
DNA Change (Coding Nucleotide) | 402C>G |
Transcript ID (GRCh37/hg19) | ENST00000330315 |
Codon | 134 |
Exon | 1 |
Genomic Coordinates (GRCh37/hg19) | 3:138665163-138665163 |
COSMIC ID | 33661 |
Germline/Somatic? | Somatic |
Tumor Type | Primary Site |
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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.