The distribution of pathogenic variants among MMR genes in our study seems remarkable: 50% of variants were found in PMS2, 25% in MSH6, and 15% in MLH1 and 10% in MSH2, as it is not reflective of the distribution of pathogenic variants in MMR genes in cancer populations, where up to 90% of variants are found in MLH1 and MSH2 genes58. Here, MLH1 is linked to cancer.