However, prompted by the propensity of somatic variants to occur at the CpG regions, frequent CIMP positivity, and the predominance of SBS1 in our study case’s tumors when comparing the mutational data to COSMIC consensus signatures (Table 1; Supplementary Figure S2), we compared sample signatures to a specific subset of hypermutator signatures associated with MSI and spontaneous demethylation of C>T to see whether the tumor phenotypes were indicative of MBD4-associated tumorigenesis as described by Degasperi et al. This evidence concerns the gene MBD4 and neoplasm.