Development and validation of predictive model for identification of MLH1 and MSH2 mutation carriers in Lynch syndrome

Descripció del recurs: 19 gener 2011Lynch syndrome is the most frequent hereditary colorectal cancer syndrome. It is estimated to account for 1-3% of all colorectal cancer patients and endometrial cancer patients14. Many studies have been published to attempt to address the prevalence of this syndrome and the heterogeneity is huge, mostly because population-based studies are few, geographical distribution of carriers may differ due to founder mutations, or studies may include testing of different type of mismatch repair (MMR) genes15-28. Nevertheless, it is important to highlight that definition of the syndrome has not always been homogeneous and it has hampered its recognition and diagnosis