Fig. 1: Mutational landscape of adult testicular germ cell tumours (TGCT).

a Genomic profiling of primary and metastatic TGCT samples with matched germline DNA from peripheral blood. Samples were collected from 60 participants recruited from seven NHS Genomic Medicine Centres (GMCs) across England as indicated on the map. The human silhouette drawing was modified from a template from V<underline>ecteezy.com</underline> (https://www.vecteezy.com/vector-art/299365-medical-infographic-of-human-body). b From top to bottom: number of coding mutations identified in each sample; number of insertions and deletions (indels) in each sample; total number of structural variants in each sample, separated into tandem duplications (TD), deletions (DEL), head-to-head (H2HINV) and tail-to-tail (T2TINV) inversions, transversions (TRANS); proportion of mutations assigned to single base substitution (SBS), insertion/deletion (ID), and doublet base substitution (DBS) mutational signatures; TGCT subtype; tumour type (primary or metastasis); clinical stage; age-group of participant; mutation status of KIT driver gene; mutation status of RAS (KRAS or NRAS) driver genes; presence or absence of 12p amplification according to GISTIC2. Exposures or processes linked with mutational signatures are listed. Two samples that were not sequenced via a PCR-free workflow are excluded from this figure. HRD homologous recombination deficiency, amp amplification, mut driver mutation, NHEJ non-homologous end joining, NSGCT non-seminomatous germ cell tumours, ROS reactive oxygen species, y years of age.