Fig. 1: Overview of cancer types with TERTp mutations in GENIE.
59 cancer types from GENIE (v11) were considered, all having at least 1% TERTp-mutated samples. For each cancer type, the fraction of samples with ETS-forming TERTp driver mutations and recurrent atypical mutations is indicated, as well as the fraction UV-related single and double base substitutions (mutational signatures SBS7 and DBS1, respectively). All recurrent TERTp mutations (present in ≥10/19,755 samples and being within 300 bp upstream of the TERT translation start site) are indicated by separate colours. Numbers (e.g. −146) refer to base positions relative to the translation start. Cancer types were divided into subcohorts based on the frequency of TERTp driver mutations (above or below 20%) and the fraction UV-related substitutions (above or below 10%). The number of patients (each represented by a single tumour sample) is indicated within parentheses for each cancer type, and OncoTree48 codes are shown within square brackets. SNV, single nucleotide variant; DNV, double nucleotide variant. Source data are provided as a Source Data file.
