The Specificity of the FOXL2 c.402C>G Somatic Mutation: A Survey of Solid Tumors

作者: Kasmintan A. Schrader , Bella Gorbatcheva , Janine Senz , Alireza Heravi-Moussavi , Nataliya Melnyk

DOI: 10.1371/JOURNAL.PONE.0007988

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摘要: Background A somatic mutation in the FOXL2 gene is reported to be present almost all (97%; 86/89) morphologically defined, adult-type, granulosa-cell tumors (A-GCTs). This c.402C>G changes a highly conserved cysteine residue tryptophan (p.C134W). It was also found minority of other ovarian malignant stromal tumors, but not benign or unrelated breast cancers. Methodology/Principal Findings Herein we studied cancers and cell lines for presence this mutation. We screened DNA from 752 epithelial mesenchymal origin 28 cancer 52 varied origin. an unreported A-GCT case A-GCT-derived line KGN. All analyzed were negative. Conclusions/Significance In addition proving that KGN useful model study A-GCTs, these data show commonly wide variety therefore it likely pathognomonic A-GCTs closely related tumors.

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