Oncogenetic research group

Researchers from the Rare and Hereditary Tumor group focus on understanding how genetic factors contribute to the development of tumors. Some individuals inherit specific genetic variants that increase their risk of developing tumors. We study these genetic changes to uncover their roles. As part of the Erasmus MC Cancer Institute and Rare Disease Center, we collaborate with a network of 27 cancer centers, including groups dedicated to hereditary breast and ovarian cancer, DNA repair disease and neurofibromatosis. Our work involves studying DNA using advanced sequencing methods to diagnose genetic tumor syndromes. While many patients are successfully diagnosed with a hereditary predisposition, in many other cases the cause remains unknown. At this point, a multidisciplinary team of experts investigates whether they can identify the often-complex genetic factors and their impact on tumor development. This approach enables us to provide personalized advice, including recommendations for reducing tumor risk, such as lifestyle changes, monitoring programs, and preventive care. In addition to studying DNA, we specialize in detecting tumors at an early stage using advanced techniques such as analysing tumor DNA, metabolites, or tumor cells in blood. These insights help us predict disease progression, monitor the effectiveness of treatments, and provide tailored care. Our studies cover hereditary tumor syndromes such as Lynch syndrome, Peutz-Jeghers syndrome, and others, with a focus on accurate risk assessments. We participate in national and international initiatives such as HEBON, NESTOR, and ERN-GENTURIS, which combine resources and data to advance research and improve patient care. Our mission is to prevent cancer in families with a potential tumor predisposition syndrome and increase our understanding of genomic changes affecting tumor biology and risk. In the near future, we envision a seamless implementation the tumor-first approach, in which the department of Pathology and Clinical Genetics are an integral part of the hospital diagnostic workflow of patients with cancer.  This multidisciplinary approach directly influences clinical decisions about therapy and surgery. Through collaboration and innovation, we aim to raise awareness and ensure that genetic testing benefits patients and society.

NEtherlandS genetic TumOr Risk Registry (NESTOR) and the Registry for Genetic Tumour Risk Syndromes (ERN-GENTURIS)

Exploiting Vulnerabilities Intrinsic to Cancer Cells for Therapy (EVICT)

Integrative Neoplasm Screening and Predisposition Investigation for Risk Evaluation (INSPIRE) 

Department of Clinical Genetics 

Pathology and Clinical Bioinformatics 

Department of Ophthalmology 

Department of Paediatric Surgery 

Department of Gastroenterology and Hepatology 

Rotterdam Ocular Melanoma Center 

Radboud University Medical Center

Amsterdam UMC

Leiden University Medical Center

The Netherlands Cancer Institute

University Medical Center Groningen

UMC Utrecht

Maastricht UMC

ERN-GENTURIS

Anja Wagner, MD, PhD, Clinical Geneticist
Erwin Brosens, PhD Molecular Geneticist
Barbara van Paassen, MD, PhD, Clinical Geneticist
Marieke van Dooren, MD, PhD, Clinical Geneticist
Rick van Minkelen, PhD, Laboratory Specialist Clinical Genetics
Frank Magielsen, Ing, Database Administrator
Sandra van der Sluis – de Heer, Database Manager
Walter Voogt, Ing, Database Manager
Conny van der Meer, Clinical Nurse Specialist
Daniël Hoekman, MD, PhD, Clinical Geneticist
Daniëlle Bosch, MD, PhD, Clinical Geneticist
Judith Prins – Cornelisse, Clinical Nurse Specialist
Margreethe van Vliet, consultant clinical genetics
Margriet Collee, MD, PhD, Clinical Geneticist
Miriam van der Aa, Clinical Nurse Specialist
Paul Gundlach, Clinical Nurse Specialist
Tanja Nuiten, Clinical Nurse Specialist
Tessa van Dijk, MD, PhD, Clinical Geneticist
Yvette van Ierland, MD, PhD, Clinical Geneticist