National database for hereditary cancer is becoming a reality

A research collaboration between all Dutch academic medical centres and the NKI-AVL is going to build a national registry with clinical and genetic data from people with a genetic predisposition for cancer.

Lead by Nicoline Hoogerbrugge from Radboudumc, the NEtherlandS genetic TumOr Risk Registry (NESTOR) was funded by KWF with 3.4 million euro, and took off in June of 2024. Together, this collaboration will boost research on hereditary cancer, which is currently going slowly due to limited data availability. By collecting patient data from all Dutch genetic centres in one large registry, the collaboration will increase the feasibility of research on genetic tumour risk syndromes.

Genetic tumour risk syndromes concern around 1,200 new patients annually in The Netherlands. The majority of the patients with a genetic tumour risk syndrome are not yet recognized and diagnosed as such, because we do not know the complete phenotype, genotype or molecular mechanisms associated with the genetic cancer predisposition. Currently, we know over 200 cancer-predisposition genes of which the prevalence varies between 0.1 to 40 per 100,000 individuals. Hereditary cancers often look like common cancers, but behave differently and need a different approach in detection and treatment to avoid morbidity and mortality.

After the identification of a genetic cause, risk-reducing surgery, surveillance and early treatment in unaffected relatives carrying the mutation is often lifesaving. However, only for a small minority of tumour risk syndromes, information is known on cancer risk, optimal treatment and prevention. More research is needed on the rare forms of hereditary cancer. These data are present in the individual Dutch genetic centres, but they are dispersed and scattered through multiple systems, and therefore hardly accessible for research purposes. This leads to preventable morbidity and mortality, reduced quality of life, and unnecessary health care and societal expenditures.

NESTOR will change these issues for the better. With NESTOR, the consortium will build a sustainable, interactive and inclusive national database that contains comprehensive historical and prospective data on thousands of patients with a genetic tumour risk syndrome. By bundling the scattered data, they will become more easily available for research, ready to boost research into hereditary cancer in terms of recognition, treatment and prevention. Therefore, the database will be accessible upon data request for scientists, healthcare professionals, patients and national authorities.

More information (in Dutch) can be found on the news site of Radboudumc and KWF.