STANDARD_NAME	MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_27
SYSTEMATIC_NAME	M3815
COLLECTION	C2:CGP
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_27
NAMESPACE	HUMAN_GENE_SYMBOL
DESCRIPTION_BRIEF	Amplification hot spot 27: colocalized fragile sites and cancer genes in the 5p15.3-p15.1; 5p12-q35 region.
DESCRIPTION_FULL	DNA copy number amplifications activate oncogenes and are hallmarks of nearly all advanced tumors. Amplified genes represent attractive targets for therapy, diagnostics and prognostics. To investigate DNA amplifications in different neoplasms, we performed a bibliomics survey using 838 published chromosomal comparative genomic hybridization studies and collected amplification data at chromosome band resolution from more than 4500 cases. Amplification profiles were determined for 73 distinct neoplasms. Neoplasms were clustered according to the amplification profiles, and frequently amplified chromosomal loci (amplification hot spots) were identified using computational modeling. To investigate the site specificity and mechanisms of gene amplifications, colocalization of amplification hot spots, cancer genes, fragile sites, virus integration sites and gene size cohorts were tested in a statistical framework. Amplification-based clustering demonstrated that cancers with similar etiology, cell-of-origin or topographical location have a tendency to obtain convergent amplification profiles. The identified amplification hot spots were colocalized with the known fragile sites, cancer genes and virus integration sites, but global statistical significance could not be ascertained. Large genes were significantly overrepresented on the fragile sites and the reported amplification hot spots. These findings indicate that amplifications are selected in the cancer tissue environment according to the qualitative traits and localization of cancer genes.
PMID	16751803
GEOID	
AUTHORS	Myllykangas S,Himberg J,Böhling T,Nagy B,Hollmén J,Knuutila S
CONTRIBUTOR	Arthur Liberzon
CONTRIBUTOR_ORG	MSigDB Team
EXACT_SOURCE	Table 1: 5p15.3-p15.1; 5p12-q35
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	
SOURCE_MEMBERS	AF5q31,APC,FACL6,FLT4,FRA5B,FRA5C,FRA5D,FRA5F,FRA5G,GRAF,LIFR,NPM1,NSD1,PDGFRB,RANBP17,TLX3
GENE_SYMBOLS	,APC,ACSL6,FLT4,,,,,,ARHGAP26,LIFR,NPM1,NSD1,PDGFRB,RANBP17,TLX3
FOUNDER_NAMES