MLH1 and endometrial cancer: Genetic risk factors for endometrial cancer include inherited pathogenic variants DNA mismatch repair (MMR) genes associated with Lynch Syndrome (MLH1, MSH2, MSH6 and PMS2) and the tumour suppressor PTEN. Genome-wide technologies, such as single nucleotide polymorphisms (SNP)-arrays have identified common risk loci associated with endometrial cancer that confer levels of risk (odds ratio [OR] < 2), and in aggregate explain less than a third of the estimated familial relative risk for endometrial cancer (Chen et al. 2016; O’Mara et al. 2018; Wang et al. 2022).