PMS2 and colorectal carcinoma: In the analysis by mutated MMR gene (PMS2 and EPCAM excluded due to low sample number), for individuals with germline pathogenic variants in the MLH1 gene we observed that those with the CC genotype of A1298C (rs1801131) had a 39% lower risk of developing CRC than individuals with the AA genotype (HR 0.61 (CI 0.42–0.89), p = 0.011, see Table 5 and Fig. 1).