STANDARD_NAME MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_24 SYSTEMATIC_NAME M16402 COLLECTION C2:CGP MSIGDB_URL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_24 NAMESPACE HUMAN_GENE_SYMBOL DESCRIPTION_BRIEF Amplification hot spot 24: colocalized fragile sites and cancer genes in the 1q21-q24 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: 1q21-q24 FILTERED_BY_SIMILARITY EXTERNAL_NAMES_FOR_SIMILAR_TERMS EXTERNAL_DETAILS_URL SOURCE_MEMBERS AF1Q,ARNT,BCL9,FCGR2B,FRA1F,HRPT2,HSPCA,IRTA1,MUC1,NTRK1,PBX1,PMX1,PRCC,SDHC,TPM3 GENE_SYMBOLS MLLT11,ARNT,BCL9,FCGR2B,,CDC73,HSP90AA1,FCRL4,MUC1,NTRK1,PBX1,PRRX1,PRCC,SDHC,TPM3 FOUNDER_NAMES