MLH1 and neoplasm: Results of the NGS analysis, in this case, showed that, as compared with the non-tumourous region, the CRC tumour specimen harbored three major somatic mutations: 15% alleles with MLH1 c.2040C>T silent mutation (NM_000249.3), 31% with PMS2 c.379G>A, which results in missense mutation Ala127Thr (NM_000535.7), and 40% with MSH6 c.3152delT mutation, which results in a frameshift at Val1051 and premature translation termination (NM_000179.2) (Fig 3).