What we do
About our project
Integrative Neoplasm Screening and Predisposition Investigation for Risk Evaluation (INSPIRE)
Hereditary Cancer
Genetic Tumor Risk Syndromes (GENTURIS) are inherited conditions caused by pathogenic variants in over 200 known cancer predisposition genes. Affecting around 300,000 people in the Netherlands and 1 in 60 cancer patients, these syndromes often lead to early-onset, multi-organ tumors. While some are well understood, most lack data on risk, treatment, and prevention. As a result, many patients remain undiagnosed or inadequately managed, leading to preventable health issues and rising healthcare costs. A major barrier is the limited accessibility of valuable clinical and genetic data, which remains siloed within individual genetic centers.
Working Together to Catch Cancer Early and Save Lives
Some individuals inherit genetic variants that increase their risk of developing tumors. At Erasmus MC, we study these variants using advanced sequencing to diagnose hereditary tumor syndromes. As part of a national network of 27 cancer centers, we collaborate across specialties, including breast and ovarian cancer, DNA repair disorders, and neurofibromatosis.
Personalized Cancer Risk Assessment
While many patients receive a clear diagnosis, others remain unexplained. Our multidisciplinary team investigates complex genetic factors to uncover hidden causes. This research enables us to offer personalized risk assessments and tailored prevention strategies, including lifestyle advice, monitoring programs, and early interventions to reduce cancer risk.
A Tumor-First Approach to Personalized Cancer Risk Management
Our mission is to prevent cancer in families with suspected tumor predisposition syndromes and to deepen our understanding of genomic changes driving tumor biology and risk. We envision a future where a tumor-first approach is seamlessly integrated into hospital diagnostics, with Pathology and Clinical Genetics working together from the outset. This multidisciplinary model will directly inform treatment and surgical decisions. Through innovation and collaboration, we aim to raise awareness, improve early detection, and ensure that genetic testing becomes a standard, impactful part of care—benefiting both individual patients and society as a whole.
Hereditary Cancer
Genetic Tumor Risk Syndromes (GENTURIS) are inherited conditions caused by pathogenic variants in over 200 known cancer predisposition genes. Affecting around 300,000 people in the Netherlands and 1 in 60 cancer patients, these syndromes often lead to early-onset, multi-organ tumors. While some are well understood, most lack data on risk, treatment, and prevention. As a result, many patients remain undiagnosed or inadequately managed, leading to preventable health issues and rising healthcare costs. A major barrier is the limited accessibility of valuable clinical and genetic data, which remains siloed within individual genetic centers.
Working Together to Catch Cancer Early and Save Lives
Some individuals inherit genetic variants that increase their risk of developing tumors. At Erasmus MC, we study these variants using advanced sequencing to diagnose hereditary tumor syndromes. As part of a national network of 27 cancer centers, we collaborate across specialties, including breast and ovarian cancer, DNA repair disorders, and neurofibromatosis.
Personalized Cancer Risk Assessment
While many patients receive a clear diagnosis, others remain unexplained. Our multidisciplinary team investigates complex genetic factors to uncover hidden causes. This research enables us to offer personalized risk assessments and tailored prevention strategies, including lifestyle advice, monitoring programs, and early interventions to reduce cancer risk.
A Tumor-First Approach to Personalized Cancer Risk Management
Our mission is to prevent cancer in families with suspected tumor predisposition syndromes and to deepen our understanding of genomic changes driving tumor biology and risk. We envision a future where a tumor-first approach is seamlessly integrated into hospital diagnostics, with Pathology and Clinical Genetics working together from the outset. This multidisciplinary model will directly inform treatment and surgical decisions. Through innovation and collaboration, we aim to raise awareness, improve early detection, and ensure that genetic testing becomes a standard, impactful part of care—benefiting both individual patients and society as a whole.
Our research focus
Advancing GENTURIS Research with Translational Genomics and Cellular Modeling
Current diagnostics could underestimate hereditary cancer risk by focusing only on known genes. Our study aims to improve detection and risk assessment in GENTURIS by integrating clinical, family, and tumor data with comprehensive molecular analyses. We apply whole genome sequencing (long- and short-read), epigenomics, transcriptomics, and proteomics to both germline and tumor material. Patient-derived cellular models and genome editing help us study tumor biology and genotype-phenotype correlations. This translational approach uncovers molecular mechanisms driving hereditary cancer and supports personalized prevention, surveillance, and treatment strategies for families with suspected tumor predisposition syndromes.
From Genes to Care: Personalizing Cancer Risk and Prevention
This study aims to expand genetic evaluation beyond known cancer predisposition genes by adopting a genome-wide, multi-omics approach. We will analyze germline and tumor material using epigenomic, transcriptomic, and proteomic profiling, integrating these findings with clinical data, family histories, and tumor characteristics. Our goal is to uncover both common and rare variants linked to GENTURIS, clarify hereditary cancer mechanisms, and refine risk assessment. By evaluating current surveillance guidelines, we aim to improve early detection and personalized prevention strategies. This integrated, translational approach will advance cancer genetics and support more effective, individualized care for patients and at-risk relatives.
Current diagnostics could underestimate hereditary cancer risk by focusing only on known genes. Our study aims to improve detection and risk assessment in GENTURIS by integrating clinical, family, and tumor data with comprehensive molecular analyses. We apply whole genome sequencing (long- and short-read), epigenomics, transcriptomics, and proteomics to both germline and tumor material. Patient-derived cellular models and genome editing help us study tumor biology and genotype-phenotype correlations. This translational approach uncovers molecular mechanisms driving hereditary cancer and supports personalized prevention, surveillance, and treatment strategies for families with suspected tumor predisposition syndromes.
From Genes to Care: Personalizing Cancer Risk and Prevention
This study aims to expand genetic evaluation beyond known cancer predisposition genes by adopting a genome-wide, multi-omics approach. We will analyze germline and tumor material using epigenomic, transcriptomic, and proteomic profiling, integrating these findings with clinical data, family histories, and tumor characteristics. Our goal is to uncover both common and rare variants linked to GENTURIS, clarify hereditary cancer mechanisms, and refine risk assessment. By evaluating current surveillance guidelines, we aim to improve early detection and personalized prevention strategies. This integrated, translational approach will advance cancer genetics and support more effective, individualized care for patients and at-risk relatives.
Collaborations
Department of Clinical Genetics
Pathology and Clinical Bioinformatics
Erasmus MC Cancer Institute
Erasmus MC Center for Familial and Hereditary Cancer
Expertisecentrum voor oogtumoren
NEtherlandS genetic TumOr Risk Registry (NESTOR) and the European research Network (ERN) Registry for Genetic Tumour Risk Syndromes (GENTURIS)
Our team
Erwin Brosens, PhD Molecular Geneticist
Anja Wager, MD, PhD, Clinical 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
Anja Wager, MD, PhD, Clinical 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
