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. 2023 Sep 15;13:15287. doi: 10.1038/s41598-023-42495-2

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Analysis of omics data from the metastatic urothelial cancer cohort at Hospital del Mar. (a) Study design. We performed whole exome sequencing (WES) and RNA sequencing (RNA-Seq) from a cohort of 27 patients. The cohort included 17 responders (partial or complete response) and 10 non-responders (progressive disease). We measured the differences in the distribution of several biomarkers, including clonal and subclonal TMB, mutational signatures, number of predicted mutation-induced neoantigens and gene expression signatures in responders and non-responders. Created with BioRender.com. (b) Tumor mutational burden (TMB) compared to different TCGA cancer cohorts. The number of non-synonymous mutations in the cohort in our cohort (HdM-BLCA-1) was very similar to the bladder cancer TCGA cohort and in accordance with this being a highly mutated cancer. The names below the plot represent the TCGA cohort abbreviation, the numbers above represent the cohort sizes. (c) Frequencies of different pairwise nucleotide substitutions. C->T mutations were the most frequent ones, followed by C->G. TI transition, Tv transversion. (d) Cancer-related frequently mutated genes. Missense, frameshift and nonsense mutations are shown. Genes have been classified into ‘Oncogenes’, ‘Tumor suppressor genes’ and ‘Function unclear’ based on previous knowledge. NR no responders, R responders.