N01: The German HNPCC Consortium: Aims, Structure, Methods and Data

C. Engel1, S. Aretz2 – on behalf of the German HNPCC Consortium

1 – Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany. 2 – Institute of Human Genetics, Center for Hereditary Tumor Syndromes, Biomedical Center, University Hospital Bonn, Bonn, Germany

Aim: The German HNPCC Consortium, 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 and research for individuals suspected of having an inherited predisposition for colorectal cancer. In the past, the consortium has focused on Lynch Syndrome (LS) but aims to cover also the broad spectrum of other familial colorectal cancer entities.

Method: Families 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 measures. Research goals are e.g. search for new disease causing genes, genotype-phenotype correlations and tumour risks, tumour immunology, and efficacy of intensified surveillance.

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 scope of the retro- and prospective data collection comprises fully structured pedigrees, familial tumour history, detailed results of diagnostics and results of surveillance.

Conclusion: Currently, approx. 8,800 individuals (patients, asymptomatic mutation carriers, relatives at risk) from 5,500 families are centrally registered (2,100 LS patients).