Fig. 6

Distinct genomic phenotypes in mCRPC are enriched by mutually exclusive aberrations in key pathways. a Cluster-specific enrichment of mutated genes (multiple colors), chromothripsis (light pink), and structural variants (light blue) (Fisher’s Exact Test with BH correction; q ≤ 0.05). Percentages to the left of the black line represent the relative mutational frequency in mCRPC samples, which are not present in the respective cluster, while the percentages to the right of the black line represent the relative mutational frequency present in the samples from the tested cluster. b Genomic overview with biologically relevant genes in the clusters A, B, D, and F with mutational enrichment of genes or large-scale events. The first track represents the number of genomic mutations per Mbp (TMB) per SNV (blue), InDels (yellow), and MNV (orange) category genome-wide (square-root scale). The second track represents the absolute number of unique structural variants (green) per sample. The third track represents the relative frequency per structural variant category. Tandem duplications and deletions are subdivided into >100 kbp and <100 kbp categories. The fourth track represents relative genome-wide ploidy status, ranging from 0 to ≥7 copies. The fifth track represents the relative contribution to mutational signatures (COSMIC) summarized per proposed etiology. The sixth track displays somatic mutations in the relevant genes found in at least one cluster. The lower tracks represent presence of ETS fusions (green), chromothripsis (pink), kataegis (red), CHORD prediction scores (HR-deficiency) (pink gradient), and MSI status (blue) based on a threshold of MSI characteristics