Barbara Klink

Abstract Germline genetic testing practices for hereditary cancer vary across the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) member countries. We surveyed experts in genetic testing from 20 EU member countries and Norway to assess multi-gene panel usage, availability of genome-wide sequencing, first-tier testing approaches, implementation of polygenic risk scores, and the roles of non-genetic healthcare professionals.

Abstract Drug resistance of metastatic colorectal cancer (mCRC) remains a major therapeutic challenge. Screening patient-derived tumor cells with diverse compounds in 3D models may overcome the limitations of genomics-based drug response predictions. We describe a personalized functional profiling (PFP) approach in mCRC using patient-derived spheroids (PDS) and assess its utility in predicting drug responses.

Abstract Hereditary cancer syndromes are among the most common inherited disorders and contribute to nearly 10% of solid tumours. While genetic testing is now central to diagnosis, surveillance, and cascade prevention, its impact is constrained by the persistent challenge of variants of uncertain significance (VUS), which comprise almost 40% of reported hereditary cancer syndrome-associated variants in ClinVar.