American Association for Cancer Research
00085472can160436-sup-162231_1_supp_3519567_z81nzj.xlsx (42.92 MB)

Supplementary Table S2 from Paired Exome Analysis Reveals Clonal Evolution and Potential Therapeutic Targets in Urothelial Carcinoma

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posted on 2023-03-31, 00:30 authored by Philippe Lamy, Iver Nordentoft, Karin Birkenkamp-Demtröder, Mathilde Borg Houlberg Thomsen, Palle Villesen, Søren Vang, Jakob Hedegaard, Michael Borre, Jørgen Bjerggaard Jensen, Søren Høyer, Jakob Skou Pedersen, Torben F. Ørntoft, Lars Dyrskjøt

Mutations called by MuTect.


Lundbeck Foundation



Greater knowledge concerning tumor heterogeneity and clonality is needed to determine the impact of targeted treatment in the setting of bladder cancer. In this study, we performed whole-exome, transcriptome, and deep-focused sequencing of metachronous tumors from 29 patients initially diagnosed with early-stage bladder tumors (14 with nonprogressive disease and 15 with progressive disease). Tumors from patients with progressive disease showed a higher variance of the intrapatient mutational spectrum and a higher frequency of APOBEC-related mutations. Allele-specific expression was also higher in these patients, particularly in tumor suppressor genes. Phylogenetic analysis revealed a common origin of the metachronous tumors, with a higher proportion of clonal mutations in the ancestral branch; however, 19 potential therapeutic targets were identified as both ancestral and tumor-specific alterations. Few subclones were present based on PyClone analysis. Our results illuminate tumor evolution and identify candidate therapeutic targets in bladder cancer. Cancer Res; 76(19); 5894–906. ©2016 AACR.

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