Fig. 1

Recurrent genomic alterations and comparison of G1pTa and G3pT1 tumours. A The distribution of non-synonymous mutations and focal CNAs in COSMIC tier 1 genes found in ≥ 8 patients out of 93 NMIBC cases. The top panel of the figure shows the recurrently altered gene symbol on the left, the recurrence frequency on the right, and the area between them is divided into 93 columns, each representative of a NMIBC patient from the BCPP cohort. The individual colour codes within the cells are representative of the genomic alteration type. The middle panel of the figure represents TERT promoter mutation status (from targeted sequencing), tumour grade, tumour stage, NMIBC risk group, and gender. The third panel of the figure represents the six classes of base substitution (C>A, C>G, C>T, T>A, T>C, and T>G) frequency in each of the patients. B Comparative difference in alteration incidence (mutation and/or copy number alterations) amongst the RTK/RAS/PI(3)K and the TP53/cell cycle cellular pathways. Each constituent gene has two boxes beneath it in blue (left side) and red (right side) colours for G1pTa (n = 21) and G3pT1 (n = 51) tumours, respectively. The number within each of the boxes indicates the percentage of the patients altered (mutated/CNA) either in G1pTa (blue box) or G3pT1 (red box). If no alterations were detected, then the relevant boxes have no colour. C Boxplots comparing the overall distribution of tumour mutational burden (TMB; log2 transformed) and copy number alteration (CNA) burden in G1pTa (n = 21; blue colour) and G3pT1 (n = 51; red colour) samples. The X-axis is the stage (G1pTa or G3pT1), and the Y-axis is the aberration index: either TMB or CNB. Mann-Whitney tests were performed to assess the statistical significance, and the p-values are noted above each pair of boxplots