The German Lynch Syndrome Registry

Christoph Engel, MD; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany


on behalf of the German Consortium for Familial Intestinal Cancer


AIM: The German Consortium for Familial Intestinal Cancer, founded in 1999, is a joint network of currently 14 clinical university centers, a reference pathology, and a central documentation facility aiming to provide structured interdisciplinary care for individuals suspected of having an inherited predisposition for colorectal cancer and to conduct research projects. METHOD: In the past, the consortium has focused on Lynch Syndrome (LS), but it now aims to cover also the broad spectrum of other familial intestinal cancer entities. Families suspected of having LS are ascertained based on the established Amsterdam and Bethesda criteria. Interdisciplinary care comprises genetic counseling, molecular pathological tumour analyses for mismatch repair deficiency, germline testing of predisposing genes, and structured intensified surveillance. Research topics are e.g. search for new disease causing genes, characterization of genotype-phenotype correlations and tumour risks, tumour immunology studies, and the conduct and evaluation of intensified surveillance studies. RESULTS: The consortium has established a central research database, which is populated by the clinical centres using a web-based remote online data capture application based on standardized documentation. The retro- and prospective data collection comprises fully structured pedigrees, familial tumour history, detailed results of diagnostics and surveillance. CONCLUSION: Currently, ~9,800 individuals (patients, asymptomatic mutation carriers, relatives at risk) from ~6,600 families are centrally registered (~2,270 LS patients).