Genomics

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Mutation of FOXL2 in granulosa cell tumors of the ovary


ABSTRACT: We generated paired-end RNA-Seq data using the Illumina Genome Analyzer II platform for four adult granulosa cell tumours (GCTs) of the ovary (1 primary, 3 recurrent). We screened this data for the presence of GCT specific sequence variants and detected a non-synonymous mutation in the FOXL2 gene that was found to be recurrent in 97% of 89 additional GCTs. To measure genomic stability of the four index cases, we generated Affmetrix SNP 6.0 data and analysed these data for copy number changes. Raw sequence reads as well as Affymetrix CEL files are available to applicants.

PROVIDER: EGAS00000000040 | EGA |

REPOSITORIES: EGA

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Publications

Mutation of FOXL2 in granulosa-cell tumors of the ovary.

Shah Sohrab P SP   Köbel Martin M   Senz Janine J   Morin Ryan D RD   Clarke Blaise A BA   Wiegand Kimberly C KC   Leung Gillian G   Zayed Abdalnasser A   Mehl Erika E   Kalloger Steve E SE   Sun Mark M   Giuliany Ryan R   Yorida Erika E   Jones Steven S   Varhol Richard R   Swenerton Kenneth D KD   Miller Dianne D   Clement Philip B PB   Crane Colleen C   Madore Jason J   Provencher Diane D   Leung Peter P   DeFazio Anna A   Khattra Jaswinder J   Turashvili Gulisa G   Zhao Yongjun Y   Zeng Thomas T   Glover J N Mark JN   Vanderhyden Barbara B   Zhao Chengquan C   Parkinson Christine A CA   Jimenez-Linan Mercedes M   Bowtell David D L DD   Mes-Masson Anne-Marie AM   Brenton James D JD   Aparicio Samuel A SA   Boyd Niki N   Hirst Martin M   Gilks C Blake CB   Marra Marco M   Huntsman David G DG  

The New England journal of medicine 20090610 26


<h4>Background</h4>Granulosa-cell tumors (GCTs) are the most common type of malignant ovarian sex cord-stromal tumor (SCST). The pathogenesis of these tumors is unknown. Moreover, their histopathological diagnosis can be challenging, and there is no curative treatment beyond surgery.<h4>Methods</h4>We analyzed four adult-type GCTs using whole-transcriptome paired-end RNA sequencing. We identified putative GCT-specific mutations that were present in at least three of these samples but were absent  ...[more]

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