Endometrial cancer (EC) is the second most common malignancy associated with hereditary non-polyposis colorectal cancer (HNPCC) family. The development of HNPCC is associated with defects in DNA mismatch repair (MMR) pathway resulting in microsatcllite instability (MSI). MSI is present in a greater number of EC than can be accounted for by inherited MMR mutations, therefore alternative mechanisms may underline defective MMR in EC, including polymorphic variation. Aim: we checked the association between EC occurrence and two polymorphisms of MMR genes: a 1032G>>A (rs4987188) transition in the hMSH2 gene resulting in a Giy22Asp substitution and a - 93G>>A (rs 1800734) transition in the promoter of the hMLHl gene. Material and methods: These polymorphisms were genotyped in DNA from peripheral blood lymphocytes of 100 EC patients and 100 age-matched women by restriction fragment length polymorphism PCR. A positive association (OR 4,18; 95 % CI 2,23 - 7,84) was found for the G/A genotype of the -93G>>A polymorphism of the hMLH 1 gene and EC occurrence. On the other hand, the A allele of this polymorphism was associated with decreased EC occurrence. The Gly/Gly genotype slightly increased the effect of the -93G>>A-G/A genotype (OR 4,52; CI 2,41 - 8,49). Our results suggest that the -93G>>A polymorphism of the hMLH 1 gene singly and in combination with the Gly322Asp polymorphism of the hMSH2 gene may increase the risk of EC.

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