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

ConclusionPathogenic/likely pathogenicMLH1/MSH2 variants account for a substantial proportion of CRC patients with HNPCC/suspected-HNPCC in Pakistan. Our findings suggest that HNPCC/suspected-HNPCC families should be tested for these recurrent variants prior to comprehensive gene screening in this population.
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research