ERN GENTURIS Webinar with Prof. Dr. med. Elke Holinski-Feder
HNPCC related tumour risk syndromes like Lynch Syndrome, Lynch-like syndrome and familial colorectal cancer type X – pathomechanisms and clinical implications
Prof. Elke Holinski-Feder from the Medical Genetics Center München was the lecturer during this webinar. She focused 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).
Date of event: 30-09-2020
You can now listen to the presentation on the ERN website: ERN Genturis Webinars.
A European Reference Network (ERN) is a network connecting health care providers and centres of expertise of highly specialised healthcare, for the purpose of improving access to diagnosis, treatment and the provision of high-quality healthcare for patients with Rare Diseases no matter where they are in Europe. Patient representatives are involved in the governance of ERNs.
The aims of ERN GENTURIS are:
- Improved identification of people living with a genetic tumour risk syndrome
- Reduced variation in clinical practice and outcomes
- Development of evidence based clinical guidelines
- Development and use of patient registries, biobanks and research studies
- Defined health care pathways to facilitate improved access to international specialist clinical knowledge for patients and their families living throughout the EU
- Pan-European Development and use of patient registries, biobanks and research studies