Prevalence and spectrum of MLH1 , MSH2 , and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients

Background Pathogenic germline variants in MLH1, MSH2 and MSH6 genes account for the majority of Lynch syndrome (LS). In this first report from Pakistan, we investigated the prevalence of pathogenic MLH1/MSH2/MSH6 variants in colorectal cancer (CRC) patients.