Collaborative study from the Bladder Cancer Advocacy Network for the genomic analysis of metastatic urothelial cancer
Year: 2022
Type: article
Study design: Observational Study
Abstract: Urothelial Cancer - Genomic Analysis to Improve Patient Outcomes and Research (NCT02643043), UC-GENOME, is a genomic analysis and biospecimen repository study in 218 patients with metastatic urothelial carcinoma. Here we report on the primary outcome of the UC-GENOME—the proportion of subjects who received next generation sequencing (NGS) with treatment options—and present the initial genomic analyses and clinical correlates. 69.3% of subjects had potential treatment options, however only 5.0% received therapy based on NGS. We found an increased frequency ofTP53E285Kmutations as compared to non-metastatic cohorts and identified features associated with benefit to chemotherapy and immune checkpoint inhibition, including: Ba/Sq and Stroma-rich subtypes, APOBEC mutational signature (SBS13), and inflamed tumor immune phenotype. Finally, we derive a computational model incorporating both genomic and clinical features predictive of immune checkpoint inhibitor response. Future work will utilize the biospecimens alongside these foundational analyses toward a better understanding of urothelial carcinoma biology.
Source: Nature Communications
Authors: Jeffrey S. Damrauer, Wolfgang Beckabir, Jeff Klomp, Mi Zhou, Elizabeth R. Plimack, Matthew D. Galsky, Petros Grivas, Noah M. Hahn, Peter H. O’Donnell, Gopa Iyer, David I. Quinn, Benjamin G. Vincent, Diane Zipursky Quale, Sara E. Wobker, Katherine A. Hoadley, William Y. Kim, Matthew I. Milowsky
Institutions: University of North Carolina at Chapel Hill, UNC Lineberger Comprehensive Cancer Center, Fox Chase Cancer Center, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, University of Washington, Fred Hutch Cancer Center, Johns Hopkins University, University of Chicago, Memorial Sloan Kettering Cancer Center, USC Norris Comprehensive Cancer Center, Bladder Cancer Advocacy Network
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $5,890
Awards: G1385771406, SPORE in Bladder Cancer, Chemotherapy and the Bladder Cancer Immune Microenvironment, G4358663474, G6490734659, Cancer Center Support Grant, UNC Center for Environmental Health and Susceptibility, UNC Integrated Translational Oncology Program (UNC-iTOP), Cancer Center Support Grant
OpenAlex ID: W4308451475