Fig. 1

Cancer types (PANCAN) with POLE/Q/Z mutations in TCGA. a Number of cases with POLE- only, E/Q, E/Z and E/Q/Z mutations in 15 cancer types (cohort referred to as PANCAN) within TCGA. The x-axis shows the actual number of cases with POLE (green), E/Q (orange), E/Z (pink) and E/Q/Z (blue) mutations. The y-axis displays the 15 cancer types: Uterine corpus endometrial carcinoma (UCEC), Stomach adenocarcinoma (STAD), Colon and rectum adenocarcinoma [38], Skin cutaneous melanoma (SKCM), Lymphoid Neoplasm Diffuse Large B-cell Lymphoma (DLBC), Lung adenocarcinoma (LUAD), Breast invasive carcinoma (BRCA), Sarcoma (SARC), Cervical squamous cell carcinoma and endocervical adenocarcinoma (CESC), Pancreatic adenocarcinoma (PAAD), Lung squamous cell carcinoma (LUSC), Head and neck squamous cell carcinoma (HNSC), Bladder urothelial carcinoma (BLCA), Kidney renal clear cell carcinoma (KIRC), and Liver hepatocellular carcinoma (LIHC). b Case numbers with mutations in polymerase genes. The number of cases in PANCAN with mutations in the following polymerases is displayed on the Y-axis: DNTT, POLA1, POLB, POLD1, POLG, POLH, POLI, POLK, POLL, POLM, POLN, POLQ, REV1, REV3L. c Venn diagram displaying the number of cases in PANCAN with mutations in 1, 2 or 3 POL genes. d Mutations per Mb (y-axis) of PANCAN cases without POLE mutations (other) or with POLE, E/Q, E/Z and E/Q/Z (x-axis) mutations. Number of cases in each group are listed in parenthesis. e Mutation frequencies in POLE exonuclease and polymerase domains as a percentage of total number of mutations in the POLE exome. “Other” refers mutations in the entire Exome outside the exonuclease or polymerase domains. The cases are grouped by their polymerase mutation status on the y-axis, and the number in parenthesis represents the total number of POLE mutations within each group