Similarly, Waszak and colleagues established that germline mutations explain 5%–6% of medulloblastoma, most significantly in the APC, BRCA2, PALB2, PTCH1, SUFU and TP53 genes, with SUFU and PTCH1 mutations demonstrating a high prevalence in infant MBSHH (Waszak et al., 2018). The gene discussed is SUFU; the disease is medulloblastoma.