Prof. Elke Holinski-Feder from the Medical Genetics Center München will be the lecturer during this webinar. She will focus on known genetic pathomechanisms, cancer risk estimates and surveillance recommendations in HNPCC related tumour risk syndromes.
The mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2 are the most important genes in hereditary colorectal cancer (CRC) syndromes, resulting in the clinical phenotype of Lynch syndrome (LS). As these genes are DNA repair genes, tumours typically show a genetic instability of the tumour DNA, named microsatellite instability. This tumour phenotype however can also be present without a germline mutation in one of the MMR genes, named Lynch-like syndrome (LLS). The spectrum ends in very likely hereditary CRCs without microsatellite instability and germline mutations in MMR genes and so far unknown genetic causes, called the familial colorectal cancer type X (FCCX).