PTCH1 and neoplasm: Sample S2 displayed a germline variant in PTCH1. As reported previously for SHH medulloblastoma1,2, massive rearrangements due to chromothripsis were detected in all LFS cases, in stark contrast with the relatively small number of copy number variations detected in the SHH-TP53wt tumours from the control group (Supplementary Fig. 1B).