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  • Identified known and novel molecular alterations in urotheilial bladder carcinoma, locating potential therapeutic targets in 69 percent of the tumors studied
    • The receptor tyrosine kinase (RTK)/RAS pathway involved in cell cycle signaling was altered in 44 percent of tumors
    • TP53, a tumor suppressor in the p53 signaling pathway was mutated in 49 percent of tumors and functionality inactive in 76 percent of cases
    • Her2, a mutation characteristic of some breast cancers, was frequently mutated, suggesting that a subset of urothelial bladder carcinomas may respond to Her2-specific breast cancer treatments
    • Genes involved in regulating chromatin, the structure of DNA and proteins that makes up chromosomes, were frequently mutated and represent novel targets for bladder cancer
  • Corroborated the previously observed association between smoking and bladder cancer, as 72 percent of tumors were from patients with a history of tobacco smoking
    • The genomic profiles of smokers were not distinct from those of nonsmokers

 Read the full Nature paper about the TCGA-BLCA study.  Additional TCGA publications can be found at: http://cancergenome.nih.gov/publications.

Research and Publications

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