STANDARD_NAME	TCGA_GLIOBLASTOMA_COPY_NUMBER_DN
SYSTEMATIC_NAME	M5520
COLLECTION	C2:CGP
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/TCGA_GLIOBLASTOMA_COPY_NUMBER_DN
NAMESPACE	HUMAN_GENE_SYMBOL
DESCRIPTION_BRIEF	Genes down-regulated and displaying decreased copy number in glioblastoma samples.
DESCRIPTION_FULL	Human cancer cells typically harbour multiple chromosomal aberrations, nucleotide substitutions and epigenetic modifications that drive malignant transformation. The Cancer Genome Atlas (TCGA) pilot project aims to assess the value of large-scale multi-dimensional analysis of these molecular characteristics in human cancer and to provide the data rapidly to the research community. Here we report the interim integrative analysis of DNA copy number, gene expression and DNA methylation aberrations in 206 glioblastomas--the most common type of adult brain cancer--and nucleotide sequence aberrations in 91 of the 206 glioblastomas. This analysis provides new insights into the roles of ERBB2, NF1 and TP53, uncovers frequent mutations of the phosphatidylinositol-3-OH kinase regulatory subunit gene PIK3R1, and provides a network view of the pathways altered in the development of glioblastoma. Furthermore, integration of mutation, DNA methylation and clinical treatment data reveals a link between MGMT promoter methylation and a hypermutator phenotype consequent to mismatch repair deficiency in treated glioblastomas, an observation with potential clinical implications. Together, these findings establish the feasibility and power of TCGA, demonstrating that it can rapidly expand knowledge of the molecular basis of cancer.
PMID	18772890
GEOID	GSE11233
AUTHORS	Cancer Genome Atlas Research Network
CONTRIBUTOR	Jessica Robertson
CONTRIBUTOR_ORG	MSigDB Team
EXACT_SOURCE	Table 2S: reduced expression and deletion
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	
SOURCE_MEMBERS	ATAD1,C13orf1,CAB39L,CDADC1,CDKN2A,CDKN2B,CDKN2C,EBPL,ENO1,EVI2B,FAF1,FNDC3A,H6PD,hsa-mir-15a,KCNRG,KPNA3,MIR34A,NF1,OMG,PARK2,PHF11,PTEN,QKI,RB1,RCBTB1,RCBTB2,RERE,SETDB2,SLC45A1,SPSB1,TRIM13
GENE_SYMBOLS	ATAD1,SPRYD7,CAB39L,CDADC1,CDKN2A,CDKN2B,CDKN2C,EBPL,ENO1,EVI2B,FAF1,FNDC3A,H6PD,KCNRG,KPNA3,MIR34A,NF1,OMG,PRKN,PHF11,PTEN,QKI,RB1,RCBTB1,RCBTB2,RERE,SETDB2,SLC45A1,SPSB1,TRIM13,MIR15A
FOUNDER_NAMES