No evidence of constitutional MLH1 methylation was identified in normal mucosa, blood or buccal DNA for the MLH1: c.-[28A > G; 7C > T] in cis germline variant, despite observing weak (β = 0.14) methylation in the tumour DNA, heterogenous loss of MLH1/PMS2 protein expression and some of the tumour features associated with known MLH1 epimutation carriers. This evidence concerns the gene PMS2 and neoplasm.