biostudies-literatureUnknown130(9)Herman L<h4>Background</h4>FOXL2 is a transcription factor expressed in ovarian granulosa cells. A somatic variant of FOXL2 (c.402 C > G, p.Cys134Trp) is the hallmark of adult-type granulosa cell tumours.<h4>Methods</h4>We generated KGN cell clones either heterozygous for this variant (MUT) or homozygous for the wild-type (WT) allele by CRISPR/Cas9 editing. They underwent RNA-Seq and bioinformatics analyses to uncover pathways impacted by deregulated genes. Cell morphology and migration were studied.<h4>Results</h4>The differentially expressed genes (DEGs) between WT/MUT and WT/WT KGN cells (DEGs-_WT/MUT), pointed to several dysregulated pathways, like TGF-beta pathway, cell adhesion and migration. Consistently, WT/MUT cells were rounder than WT/WT cells and displayed a different distribBritish journal of cancer1453-1462https://www.ebi.ac.uk/biostudies/studies/S-EPMC11059147biostudies-literatureA cellular model provides insights into the pathogenicity of the oncogenic FOXL2 somatic variant p.Cys134Trp.PMC11059147Herman LLegois BAmo AVeitia RADi Carlo CTodeschini ALfalseA cellular model provides insights into the pathogenicity of the oncogenic FOXL2 somatic variant p.Cys134Trp.<h4>Background</h4>FOXL2 is a transcription factor expressed in ovarian granulosa cells. A somatic variant of FOXL2 (c.402 C > G, p.Cys134Trp) is the hallmark of adult-type granulosa cell tumours.<h4>Methods</h4>We generated KGN cell clones either heterozygous for this variant (MUT) or homozygous for the wild-type (WT) allele by CRISPR/Cas9 editing. They underwent RNA-Seq and bioinformatics analyses to uncover pathways impacted by deregulated genes. Cell morphology and migration were studied.<h4>Results</h4>The differentially expressed genes (DEGs) between WT/MUT and WT/WT KGN cells (DEGs-_WT/MUT), pointed to several dysregulated pathways, like TGF-beta pathway, cell adhesion and migration. Consistently, WT/MUT cells were rounder than WT/WT cells and displayed a different distrib2024-01-01T00:00:00Z2024 May2026-04-08T19:20:08.218Z2025-04-19T21:17:49.515ZS-EPMC110591473842943710.1038/s41416-024-02613-x