Variant | Gene | Type | COSMIC ID | DNA Change (Coding Nucleotide) | Exon |
---|---|---|---|---|---|
FOXL2 C134W | FOXL2 | missense | COSM33661 | 402C>G | 1 |
FOXL2 copy number gain | FOXL2 | CNV | |||
FOXL2 copy number loss | FOXL2 | CNV | |||
FOXL2 any mutation | FOXL2 | any |
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.
This gene is a known cancer gene.
This gene is a known cancer gene.