Stefan Aretz

Profile photo of Stefan AretzStefan Aretz is Professor of Genetics of Familial Tumour Syndromes and Deputy Head at the Institute of Human Genetics, University of Bonn, Germany.

He is the spokesperson of the National Centre for Hereditary Tumour Syndromes at the University Hospital Bonn and represents the centre as a member of the European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS). He is leader of the research group Familial Colorectal Cancer, and member of InSiGHT,  the German Gene Diagnostics Commission (GEKO), and the Ethics commission of the German Society of Human Genetics (GfH). He is also curator of the InSiGHT international APC locus-specific database and in the process of establishing an international APC specific Variant Curation Expert Panel (VCEP) in collaboration with ClinGen.

His long-term research interest focuses on clinical and genetic aspects of hereditary colorectal cancer, in particular Lynch syndrome and gastrointestinal polyposes through:

  1. Clinical descriptions of novel conditions
  2. The improvement of molecular genetic diagnostics of hereditary cancer
  3. Uncovering the genetic etiology of unexplained cases by identification of cryptic mutations in established genes and novel causative genes
  4. The characterisation of unclear genetic variants
  5. Evaluation and improvement of surveillance and preventive strategies.
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