title: The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors.
abstract: BACKGROUND
  A somatic mutation in the FOXL2 gene is reported to be present in almost all (97%; 86/89) morphologically defined, adult-type, granulosa-cell tumors (A-GCTs). This FOXL2 c.402C>G mutation changes a highly conserved cysteine residue to a tryptophan (p.C134W). It was also found in a minority of other ovarian malignant stromal tumors, but not in benign ovarian stromal tumors or unrelated ovarian tumors or breast cancers.
  
  
  RESULTS
  Herein we studied other cancers and cell lines for the presence of this mutation. We screened DNA from 752 tumors of epithelial and mesenchymal origin and 28 ovarian cancer cell lines and 52 other cancer cell lines of varied origin. We found the FOXL2 c.402C>G mutation in an unreported A-GCT case and the A-GCT-derived cell line KGN. All other tumors and cell lines analyzed were mutation negative.
  
  
  CONCLUSIONS
  In addition to proving that the KGN cell line is a useful model to study A-GCTs, these data show that the c.402C>G mutation in FOXL2 is not commonly found in a wide variety of other cancers and therefore it is likely pathognomonic for A-GCTs and closely related tumors.
authors: Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
authors: Kasmintan A
authors: KA
authors: Schrader
authors: Bella
authors: B
authors: Gorbatcheva
authors: Janine
authors: J
authors: Senz
authors: Alireza
authors: A
authors: Heravi-Moussavi
authors: Nataliya
authors: N
authors: Melnyk
authors: Clara
authors: C
authors: Salamanca
authors: Sarah
authors: S
authors: Maines-Bandiera
authors: Susanna L
authors: SL
authors: Cooke
authors: Peter
authors: P
authors: Leung
authors: James D
authors: JD
authors: Brenton
authors: C Blake
authors: CB
authors: Gilks
authors: John
authors: J
authors: Monahan
authors: David G
authors: DG
authors: Huntsman
mesh_terms: D000483:Alleles; D045744:Cell Line, Tumor; D003545:Cysteine / Q000235:genetics; D003582:Cytogenetics; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics* / Q000378:metabolism*; D023281:Genomics; D006106:Granulosa Cell Tumor / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics; D014018:Tissue Distribution; D014364:Tryptophan / Q000235:genetics
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; D014364:Tryptophan; D003545:Cysteine