Human Gene Set: NOUSHMEHR_GBM_GERMLINE_MUTATED


Standard name NOUSHMEHR_GBM_GERMLINE_MUTATED
Systematic name M2090
Brief description Genes with significantl germline mutation differences in proneural G-CIMP (a CpG island methylator phenotype) GBM (glyoblastoma multiforme) tumors.
Full description or abstract We have profiled promoter DNA methylation alterations in 272 glioblastoma tumors in the context of The Cancer Genome Atlas (TCGA). We found that a distinct subset of samples displays concerted hypermethylation at a large number of loci, indicating the existence of a glioma-CpG island methylator phenotype (G-CIMP). We validated G-CIMP in a set of non-TCGA glioblastomas and low-grade gliomas. G-CIMP tumors belong to the proneural subgroup, are more prevalent among lower-grade gliomas, display distinct copy-number alterations, and are tightly associated with IDH1 somatic mutations. Patients with G-CIMP tumors are younger at the time of diagnosis and experience significantly improved outcome. These findings identify G-CIMP as a distinct subset of human gliomas on molecular and clinical grounds.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 20399149   Authors: Noushmehr H,Weisenberger DJ,Diefes K,Phillips HS,Pujara K,Berman BP,Pan F,Pelloski CE,Sulman EP,Bhat KP,Verhaak RG,Hoadley KA,Hayes DN,Perou CM,Schmidt HK,Ding L,Wilson RK,Van Den Berg D,Shen H,Bengtsson H,Neuvial P,Cope LM,Buckley J,Herman JG,Baylin SB,Laird PW,Aldape K,Cancer Genome Atlas Research Network
Exact source Table 2S: GERMLINE, fisher.exact < 0.05
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Source species Homo sapiens
Contributed by Arthur Liberzon (MSigDB Team)
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identifier namespace		 HUMAN_GENE_SYMBOL
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Version history 3.1: First introduced

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