This tab shows an overview of the selected study/paper [more details]
Reference

Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO.

Paper Id
COSP30857
Authors
Clark VE,Erson-Omay EZ,Serin A,Yin J,Cotney J,Ozduman K,Avşar T,Li J,Murray PB,Henegariu O,Yilmaz S,Günel JM,Carrión-Grant G,Yilmaz B,Grady C,Tanrikulu B,Bakircioğlu M,Kaymakçalan H,Caglayan AO,Sencar L,Ceyhun E,Atik AF,Bayri Y,Bai H,Kolb LE,Hebert RM,Omay SB,Mishra-Gorur K,Choi M,Overton JD,Holland EC,Mane S,State MW,Bilgüvar K,Baehring JM,Gutin PH,Piepmeier JM,Vortmeyer A,Brennan CW,Pamir MN,Kiliç T,Lifton RP,Noonan JP,Yasuno K and Günel M
Affiliation
Department of Neurosurgery, Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, CT 06510, USA.
Journal
Science (New York, N.Y.) 2013;339(6123):1077-80
ISSN:1095-9203
PUBMED:23348505
Abstract
We report genomic analysis of 300 meningiomas, the most common primary brain tumors, leading to the discovery of mutations in TRAF7, a proapoptotic E3 ubiquitin ligase, in nearly one-fourth of all meningiomas. Mutations in TRAF7 commonly occurred with a recurrent mutation (K409Q) in KLF4, a transcription factor known for its role in inducing pluripotency, or with AKT1(E17K), a mutation known to activate the PI3K pathway. SMO mutations, which activate Hedgehog signaling, were identified in ~5% of non-NF2 mutant meningiomas. These non-NF2 meningiomas were clinically distinctive-nearly always benign, with chromosomal stability, and originating from the medial skull base. In contrast, meningiomas with mutant NF2 and/or chromosome 22 loss were more likely to be atypical, showing genomic instability, and localizing to the cerebral and cerebellar hemispheres. Collectively, these findings identify distinct meningioma subtypes, suggesting avenues for targeted therapeutics.
Paper Status
Curated
Genes Analysed
413
Mutated Samples
209
Total No. of Samples
244
This tab shows genes with mutations in the selected study/paper [more details]
Genes Samples CDS Mutation AA Mutation
This tab shows genes without mutations in the selected study/paper [more details]
Non-Mutant Genes Gene Id (COSG)
This tab shows samples without mutations in the selected study/paper [more details]
Non-Mutant Samples Sample Id (COSS)
This tab shows mutated samples in the selected study/paper [more details]
Sample Name Mutation Count
This tab shows non coding variant in the selected study/paper [more details]
Sample ID Sample Name ID NCV Annotation Zygosity Chromosome Genome start Genome stop Genome version Strand WT seq Mut seq
This tab shows the copy number variation data for this study. Only variants (classified as gain or loss) are listed. [more details]
CNV Gene Sample Position Minor Allele Copy Number Average Ploidy

1. N/A represents cases where average ploidy value is not available( mostly ICGC samples). For some TCGA samples where minor allele information is not available the average ploidy value could not be calculated.

2. For TCGA samples, Ascat algorithm is used to calculate the average ploidy.

3. For CGP samples, Picnic algorithm is used to calculate the average ploidy.

Type
This tab shows a table of count of samples having gain or loss for all genes [more details]
Gene Gain Samples Loss Samples Samples Tested
This tab shows the fusion mutations observed in this sample [more details]
Gene Sample Name Id Sample(COSS) CDS Mutation Somatic status Zygosity Validated Type