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Related Concept Videos

Adaptive Mechanisms in Cancer Cells02:53

Adaptive Mechanisms in Cancer Cells

Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Adaptive Mechanisms in Cancer Cells02:53

Adaptive Mechanisms in Cancer Cells

Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

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Updated: Jul 25, 2026

An Orthotopic Bladder Cancer Model for Gene Delivery Studies
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Genomic Characteristics of Bladder Cancer: An AACR Project GENIE Study.

John Paul Braun1, Kenneth A D Palattao1, Elijah Torbenson1

  • 1School of Medicine, Creighton University, Omaha, NE 68178, USA.

International Journal of Molecular Sciences
|December 11, 2025
PubMed
Summary

Bladder cancer exhibits significant genomic diversity. Key mutations in genes like TP53 and FGFR3 vary by demographics, revealing distinct molecular subtypes crucial for targeted therapy development.

Keywords:
AACR Project GENIEbladder cancercopy number alterationsdemographic disparitiesgenomic profilingsomatic mutationstargeted therapyurothelial carcinoma

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Last Updated: Jul 25, 2026

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Area of Science:

  • Oncology
  • Genomics
  • Cancer Research

Background:

  • Bladder and urothelial carcinoma display substantial genomic heterogeneity.
  • Understanding this diversity is critical for advancing treatment strategies.

Purpose of the Study:

  • To perform comprehensive genomic profiling of a large bladder cancer cohort.
  • To identify demographic associations, mutation frequencies, and copy number alterations.
  • To explore co-occurrence and mutual exclusivity patterns for molecular subtype discovery.

Main Methods:

  • Retrospective analysis of 4631 tumor samples from the AACR Project GENIE database.
  • Comprehensive genomic profiling including mutation analysis and copy number assessment.
  • Statistical analysis of demographic associations, mutation frequencies, and survival correlations (p<0.05).

Main Results:

  • Frequent mutations identified in TP53, TERT, KDM6A, KMT2D, ARID1A, and FGFR3.
  • Mutation frequencies showed variations by sex and race, with specific alterations enriched in female and Asian patients.
  • Distinct co-occurrence (e.g., TP53/RB1) and mutual exclusivity (e.g., TP53/FGFR3) patterns identified, defining molecular subtypes.

Conclusions:

  • Bladder cancer presents extensive genomic heterogeneity.
  • Molecular stratification is clinically important.
  • Findings support further research into targeted therapies based on identified molecular subtypes.