Human Gene Set: MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_12


Standard name MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_12
Systematic name M16845
Brief description Amplification hot spot 12: colocolized fragile sites and cancer genes in the 17q11.1-q21; 17q25 region.
Full description or abstract 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.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 16751803   Authors: Myllykangas S,Himberg J,Böhling T,Nagy B,Hollmén J,Knuutila S
Exact source Table 1: 17q11.1-q21; 17q25
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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 3.0: First introduced

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