The variant found in this study has been found in a study performed by Ward et al., in two individuals: one with early onset (22 years), the other with multiple colorectal cancers (50, 52 and 54 years), both with MLH1 loss on immunohistochemistry analysis and low-level constitutional hypermethylation of the MLH1 promoter. This evidence concerns the gene MLH1 and colorectal cancer.