• Càncer

[SCItalk] Bridging Data from Healthcare to Research: ERN GENTURIS

Nicoline Hoogerbrugge, MD, PhD
Radboud University Medical Center, The Netherlands


At present more than 40 genetic tumor risk syndromes are known. Additionally, we all know many more families with multiple cancers or cancers at young age with a yet unknown genetic cause.

Recently we found that biallelic germline mutations affecting the base excision repair gene NTHL1 predispose to the development of adenomatous polyposis and colorectal cancer (CRC). However, the clinical characteristics associated with biallelic germline NTHL1 mutations suggest a broader tumor spectrum that includes multiple extracolonic malignancies. The aim of our follow-up study was to genetically characterize colorectal and extracolonic tumors in order to delineate the somatic mutational signature caused by NTHL1 deficiency to provide further insight into the associated tumor spectrum. Whole-exome sequencing was performed on tumors from four different tissues (colon, thyroid gland, urothelium, and tonsil) derived from individuals with biallelic NTHL1 mutations.
Our results demonstrate that NTHL1 deficiency is associated with a unique mutational signature, and confirms the high cancer risk and broad tumor spectrum found in individuals with biallelic germline NTHL1 mutations.

In order to find novel genetic cancer-predisposing causes or new families with a very rare disease like NTHL1 deficiency, we need a research network. Also for the implementation of new knowledge in care we need a network.

The European Reference Network Genetic Tumour Risk syndromes (ERN GENTURIS) can be the network that bridges care to research and vice versa. 



Prof. Nicoline Hoogerbrugge, MD, PhD, is full professor in hereditary cancer at Radboud University Medical Center, The Netherlands. Her ambition is to improve the detection, diagnosis, and treatment of hereditary cancer and prevent cancer in relatives.

She is the coordinator of the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS,

Over the last five years, her work has mainly focused on the implementation of current knowledge in hereditary cancer and finding new genetic factors for gastrointestinal and childhood cancer.


Her research resulted in more than 250 peer-reviewed publications.


Her research in the past five years has resulted in:

- Detection of various new genetic risk factors for gastrointestinal cancer (e.g. EPCAM, NTHL1).

- Improved recognition of hereditary cancer (breast, ovarian, childhood, endometrial and colorectal cancer).

- Knowledge concerning the efficient and effective implementation of guidelines on hereditary cancer.

- Knowledge of the psychosocial impact of hereditary cancer.

- Development of vaccination for the prevention of colorectal cancer in Lynch Syndrome.



Host: Laura Valle