Further examination of the mutations identified within this tumour revealed a single intergenic mutation, a G > A transition at position 47,739,509 on chromosome 2 (hg19 build; equivalent to position 47,512,370 hg38 build) adjacent to MSH2, which has not been reported previously in the literature but might plausibly underpin the SBS6 mutational signature and high mutation burden observed. The gene discussed is MSH2; the disease is neoplasm.