Human Gene Set: LINDGREN_BLADDER_CANCER_WITH_LOH_IN_CHR9Q


Standard name LINDGREN_BLADDER_CANCER_WITH_LOH_IN_CHR9Q
Systematic name M8411
Brief description Genes down-regulated in urothelial cell carcinoma (UCC) tumors with LOH on 9q as compared to the tumors showing retention.
Full description or abstract We used gene expression profiling, mutation analyses of FGFR3 and TP53, and LOH analyses of chromosome 9 and the TP53 region on chromosome arm 17p, to molecularly characterize 75 Ta and T1 bladder carcinomas. We identified four major cellular processes related to cell cycle, protein synthesis, immune response, and extra cellular components that contribute to the expressional heterogeneity of early-stage urothelial cell carcinoma (UCC). Activating FGFR3 mutations were found at the highest frequency in G1 tumors (80%), and showed a strong correlation with FGFR3 expression. In contrast, G3 tumors displayed mutations in less than 10% of the cases and a low level of FGFR3 expression. Even though LOH on chromosome 9 was not associated with any specific expression pattern, our data indicate that loss of chromosome 9 is associated with tumor development rather than initiation. The combined analyses suggest the existence of two types of UCC tumors, one which is characterized by FGFR3 mutation or expression, high expression of protein synthesis genes, and low expression of cell cycle genes. Furthermore, the presented data underscore FGFR3 receptor involvement in urothelial cell transformation as the presence of FGFR3 mutations has a major impact on the global gene expression profile of bladder carcinomas.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 16532037   Authors: Lindgren D,Liedberg F,Andersson A,Chebil G,Gudjonsson S,Borg A,Månsson W,Fioretos T,Höglund M
Exact source Table 5S
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Source species Homo sapiens
Contributed by Arthur Liberzon (MSigDB Team)
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identifier namespace		 Human_NCBI_Gene_ID
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