Lynch Syndrome

Dear Colleagues,

Lynch syndrome (LS) is an autosomal dominant genetic disorder associated with germline mutations in DNA mismatch repair (MMR) genes. The carriers of pathogenic mutations in these genes have an increased risk of developing a colorectal cancer and/or LS-associated cancer. The LS-associated cancer types include carcinomas of the endometrium, small intestine, stomach, pancreas and biliary tract, ovary, brain, upper urinary tract, and skin. The criteria for the clinical diagnosis of LS and the procedures of the genetic testing for the identification of pathogenetic mutations carriers in MMR genes have long been known. A crucial point in mutation detection analysis is the correct definition of the pathogenicity associated with MMR genetic variants, especially in order to include the mutation carriers in the endoscopy surveillance programs more suited to them. Therefore, defining the pathogenicity of these MMR variants may help to improve the management of LS-associated cancers. Moreover, in this Issue we would also like to report the recent discoveries in the molecular genetics of LS, such as the new roles of MMR protein as well miRNAs involved in LS tumorigenesis. Finally, we would like to discuss new therapeutic approaches such as immunotherapy available for patients that have developed LS-associated colorectal cancer.

Prof. Dr. Paola Izzo
Dr. Francesca Duraturo
Guest Editors

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