Genomic Characteristics of Bladder Cancer: An AACR Project GENIE Study

Braun, John Paul; Palattao, Kenneth A. D.; Torbenson, Elijah; Hsia, Beau; Tauseef, Abubakar

doi:10.3390/ijms262311653

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Genomic Characteristics of Bladder Cancer: An AACR Project GENIE Study

by

John Paul Braun

¹

,

Kenneth A. D. Palattao, Jr.

¹

,

Elijah Torbenson

¹,

Beau Hsia

²

and

Abubakar Tauseef

^3,*

¹

School of Medicine, Creighton University, Omaha, NE 68178, USA

²

School of Medicine, Creighton University, Phoenix, AZ 85012, USA

³

Department of Internal Medicine, School of Medicine, Creighton University, Omaha, NE 68178, USA

^*

Author to whom correspondence should be addressed.

Int. J. Mol. Sci. 2025, 26(23), 11653; https://doi.org/10.3390/ijms262311653 (registering DOI)

Submission received: 5 November 2025 / Revised: 25 November 2025 / Accepted: 27 November 2025 / Published: 1 December 2025

(This article belongs to the Special Issue Molecular Diagnostics and Therapeutic Targets in Bladder Cancer (Second Edition))

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Abstract

Bladder and urothelial carcinoma are marked by profound genomic diversity. Using a large, multi-institutional dataset, we performed comprehensive genomic profiling of 4631 tumor samples from 4050 individuals. A retrospective analysis of bladder and urothelial cancer was performed using the AACR Project GENIE database. Demographic associations, mutation frequencies, copy number changes, and survival correlations were analyzed with a p-value < 0.05. Frequent mutations were identified in TP53, TERT, KDM6A, KMT2D, ARID1A, and FGFR3. Mutation frequencies varied by sex and race, with specific alterations enriched in female and Asian patients. Distinct patterns of co-occurrence, including TP53 with RB1, and mutual exclusivity, including TP53 with FGFR3 or KDM6A, revealed distinct molecular subtypes. This study highlights the extensive heterogeneity of bladder cancer, and our findings emphasize the clinical importance of molecular stratification and support the need for further mechanistic and prospective studies to inform the development of targeted therapies.

Keywords: bladder cancer; urothelial carcinoma; genomic profiling; AACR Project GENIE; somatic mutations; copy number alterations; demographic disparities; targeted therapy

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MDPI and ACS Style

Braun, J.P.; Palattao, K.A.D., Jr.; Torbenson, E.; Hsia, B.; Tauseef, A. Genomic Characteristics of Bladder Cancer: An AACR Project GENIE Study. Int. J. Mol. Sci. 2025, 26, 11653. https://doi.org/10.3390/ijms262311653

AMA Style

Braun JP, Palattao KAD Jr., Torbenson E, Hsia B, Tauseef A. Genomic Characteristics of Bladder Cancer: An AACR Project GENIE Study. International Journal of Molecular Sciences. 2025; 26(23):11653. https://doi.org/10.3390/ijms262311653

Chicago/Turabian Style

Braun, John Paul, Kenneth A. D. Palattao, Jr., Elijah Torbenson, Beau Hsia, and Abubakar Tauseef. 2025. "Genomic Characteristics of Bladder Cancer: An AACR Project GENIE Study" International Journal of Molecular Sciences 26, no. 23: 11653. https://doi.org/10.3390/ijms262311653

APA Style

Braun, J. P., Palattao, K. A. D., Jr., Torbenson, E., Hsia, B., & Tauseef, A. (2025). Genomic Characteristics of Bladder Cancer: An AACR Project GENIE Study. International Journal of Molecular Sciences, 26(23), 11653. https://doi.org/10.3390/ijms262311653

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