The BCAC/EMC case (PD56546c) with an elevated mutation rate of 7.5 mutations/Mb (5.7 SNVs/Mb and 1.8 indels/Mb) was attributed to deficiency of mismatch repair (dMMR), as this case had SNV and indel mutational signatures found in tumours with dMMR and microsatellite instability (MSI) (COSMIC signatures SBS44, ID2 and ID7; Fig. 2c and Supplementary Fig. 6) and biallelic inactivation of MLH1 though somatic disruption of the splice acceptor site of intron 4 and copy number loss of chromosome 3q (Supplementary Fig. 6e). This evidence concerns the gene MLH1 and neoplasm.