GRCh38 · COSMIC v99

Summary

This section shows a summary for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.

Reference
Genomic Subtypes of Non-invasive Bladder Cancer with Distinct Metabolic Profile and Female Gender Bias in KDM6A Mutation Frequency.
Paper ID
COSP44576
Authors
Hurst CD, Alder O, Platt FM, Droop A, Stead LF, Burns JE, Burghel GJ, Jain S, Klimczak LJ, Lindsay H, Roulson JA, Taylor CF, Thygesen H, Cameron AJ, Ridley AJ, Mott HR, Gordenin DA and Knowles MA
Affiliation
Section of Molecular Oncology, Leeds Institute of Cancer and Pathology, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.
Journal
Cancer cell, 2017;32(5):701-715.e7
ISSN: 1878-3686
PMID: 29136510 (view at PubMed or Europe PMC)
Abstract
Bladder cancer incurs a higher lifetime treatment cost than other cancers due to frequent recurrence of non-invasive disease. Improved prognostic biomarkers and localized therapy are needed for this large patient group. We defined two major genomic subtypes of primary stage Ta tumors. One of these was characterized by loss of 9q including TSC1, increased KI67 labeling index, upregulated glycolysis, DNA repair, mTORC1 signaling, features of the unfolded protein response, and altered cholesterol homeostasis. Comparison with muscle-invasive bladder cancer mutation profiles revealed lower overall mutation rates and more frequent mutations in RHOB and chromatin modifier genes. More mutations in the histone lysine demethylase KDM6A were present in non-invasive tumors from females than males.
Paper Status
Curated