Genomic Subtypes of Non-invasive Bladder Cancer with Distinct Metabolic Profile and Female Gender Bias in KDM6A Mutation Frequency.

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.

journal_name

Cancer Cell

journal_title

Cancer cell

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,Knowles MA

doi

10.1016/j.ccell.2017.08.005

subject

Has Abstract

pub_date

2017-11-13 00:00:00

pages

701-715.e7

issue

5

eissn

1535-6108

issn

1878-3686

pii

S1535-6108(17)30348-3

journal_volume

32

pub_type

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