2009
DOI: 10.1056/nejmoa0902542
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Mutation ofFOXL2in Granulosa-Cell Tumors of the Ovary

Abstract: Whole-transcriptome sequencing of four GCTs identified a single, recurrent somatic mutation (402C-->G) in FOXL2 that was present in almost all morphologically identified adult-type GCTs. Mutant FOXL2 is a potential driver in the pathogenesis of adult-type GCTs.

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Cited by 717 publications
(679 citation statements)
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“…This is consistent across both the TCGA dataset (7/304) and our own local tumour bank (6/290; see supplementary material, Tables S1, S7). DICER1 hotspot mutations, although rare, were also identified in brain, colorectal and thyroid cancers (see supplementary material, TableDICER1 hotspot mutations in endometrial cancer 223 tumourigenesis beyond the spectrum of rare paediatric cancers [8][9][10][11][12][13][15][16][17][18]. DICER1 hotspot mutations and subsequent miRNA/mRNA dysregulation may therefore constitute a common oncogenic pathway in a small subset of endometrial tumours.…”
Section: Discussionmentioning
confidence: 99%
“…This is consistent across both the TCGA dataset (7/304) and our own local tumour bank (6/290; see supplementary material, Tables S1, S7). DICER1 hotspot mutations, although rare, were also identified in brain, colorectal and thyroid cancers (see supplementary material, TableDICER1 hotspot mutations in endometrial cancer 223 tumourigenesis beyond the spectrum of rare paediatric cancers [8][9][10][11][12][13][15][16][17][18]. DICER1 hotspot mutations and subsequent miRNA/mRNA dysregulation may therefore constitute a common oncogenic pathway in a small subset of endometrial tumours.…”
Section: Discussionmentioning
confidence: 99%
“…The recently identified recurrent 402C-G point mutation in FOXL2 has emerged as a plausible pathogenic factor for GCTs (Shah et al, 2009). On the basis of our previous study demonstrating the induction of death in rat granulosa cells after FOXL2 expression (Lee et al, 2005), we determined the cell death activity of mutant FOXL2 in human GCT-derived cells relative to that of WT FOXL2, and we found significant differences between the WT and the mutant proteins in their abilities to induced granulosa cell death.…”
Section: Discussionmentioning
confidence: 99%
“…As the FOXL2 mutation is extremely well conserved in most cases of adult-type GCTs and is also GCT-specific over other types of ovarian tumors (Schrader et al, 2009;Shah et al, 2009;Kim et al, 2010), WT FOXL2 may function as a tumor suppressor in normal granulosa cells by efficiently modulating both extrinsic and intrinsic apoptosis signaling pathways. In addition, the disparate apoptotic activities of the two proteins may at least partially account for the pathophysiology of GCT development that occurs by somatic mutation (C134W) of FOXL2.…”
Section: Discussionmentioning
confidence: 99%
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