DR-288 The Molecular Profile of Lynch Syndrome-Associated Carcinomas
Patients with Lynch Syndrome (LS) carry a mutation in MLH1, MSH2 (EPCAM), MSH6 or PMS2 and as a result have a genetic predisposition to develop colorectal cancer and endometrial cancer. Recent studies demonstrated that the clinical presentation of LS patients varies depending on which of these genes is affected, though the underlying mechanisms are incompletely understood. By analyzing the DNA of tumors of LS patients, we aim to identify and describe the pathogenic pathways responsible for this clinical variation, with the ultimate goal to develop subgroup-specific guidelines for the diagnosis, surveillance and treatment of patients with LS.
Maartje Nielsen, Leiden University Medical Center, the Netherlands
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We are proud that we succeeded in implementing the complete DNA test in standard of care diagnostics, together with Hartwig Medical Foundation. Moreover, the test produces vital information for a learning healthcare system in oncology. We will be able to treat future patients even more effectively.