Brosens Lab - Brosens Kilic Lab

1. Hereditary Cancer and Tumor Predisposition Genomics
We investigate the genetic basis of hereditary cancer syndromes, focusing on both known and novel common and rare variants that increase cancer risk. By integrating long- and short-read whole-genome and RNA sequencing with family history and clinical data, we aim to improve diagnosis and risk assessment. By integrating a variety of techniques, in-vitro experiments and in-vivo modelling, we aim to uncover complex genetic contributions to cancer predisposition, enabling more accurate surveillance strategies and personalized care for patients and families with suspected tumor predisposition syndromes. 

2. Ophthalmic Oncology and Uveal Melanoma
As part of the Rotterdam Ocular Melanoma Study Group, we focus on uveal melanoma and rare (peri-)ocular tumors. We develop innovative models and diagnostics to improve patient outcomes, including zebrafish xenografts, transgenic zebrafish, cellular models, and organoids. Our team has refined liquid biopsy techniques—such as circulating tumor DNA and metabolomics—for early detection and disease monitoring. Our research has led to the validation of biomarkers and molecular signatures that inform prognosis and treatment, directly influencing clinical decision-making in eye-sparing therapies and metastatic risk assessment.

3. Data Management and Data-Driven Decision Making
Our group specializes in program and project management, data stewardship, FAIR principles, and ethical research practices. We have implemented a department-wide data management framework aligned with institutional, national, and European standards. We manage data for the NEtherlandS genetic TumOr Risk Registry (NESTOR) and the Registry for Genetic Tumour Risk Syndromes (ERN-GENTURIS), advancing the integration of genomics into routine care and ensuring that innovations in hereditary cancer research benefit both patients and society.

4. TRACER: Tracheoesophageal and Rare Anomalies – Cancer Evolution and Risk
Our lab explores the genetic and developmental links between the VACTERL association, Esophageal Atresia, Barrett’s Esophagus, and Esophageal Cancer Risk. We have demonstrated that early epithelial changes may predispose these patients to Barrett’s esophagus and esophageal cancer. Using genomics, transcriptomics, GWAS, and tissue analysis, we have identified shared risk loci and pathways connecting congenital anomalies to cancer susceptibility. These findings support a genetics-first diagnostic approach and highlight the need for personalized, long-term cancer surveillance in this high-risk population.

5. Retinal hemangioblastomas and Von Hippel Lindau syndrome
Our lab investigates the genetic causes of retinal hemangioblastoma by mapping its genomic landscape and linking VHL gene variants to disease traits and age of onset. Using genome and RNA sequencing, we identify and characterize variants and study their impact through advanced lab models, including isogenic cell lines and retinal organoids. These models help us understand how uncertain variants drive tumor development and allow us to test targeted therapies. Our goal is to transform genetic insights into functional understanding and develop precision treatments for patients with Von Hippel-Lindau syndrome.

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) 

Minimally Invasive Uveal Melanoma Risk Stratification and Monitoring 

Tracheoesophageal and Rare Anomalies – Cancer Evolution and Risk (TRACER)

Data Management Program Department of Clinical Genetics

See project pages or https://pure.eur.nl/en/persons/emine-kili%C3%A7/publications/ and https://pure.eur.nl/en/persons/erwin-brosens/publications/

Department of Clinical Genetics 

Pathology and Clinical Bioinformatics 

Department of Ophthalmology 

Department of Paediatric Surgery 

Department of Gastroenterology and Hepatology

 

Rotterdam Ocular Melanoma Center

UitZicht 

Algemene Nederlandse Vereniging ter Voorkoming van Blindheid 

Landelijke Stichting voor Blinden en Slechtzienden 

Rotterdamse Stichting Blindenbelangen 

Stichting Oogfonds Nederland 

Combined Ophthalmic Research Rotterdam 

KWF: NEtherlandS genetic TumOr Risk Registry (NESTOR) 

Stichting Vrienden van het Sophia en het Sophia Fonds 

Stichting Wetenschappelijk Onderzoek Oogziekenhuis 

Stichting Riemerfonds voor Ooglijders 

Prof. Dr. Henkes stichting

Erwin Brosens, PhD, Molecular Geneticist, Program Manager
Emine Kilic, MD, PhD, Ophthalmologist, Ocular Oncologist and Vitreoretinal Surgeon
Rob Verdijk, MD, PhD, Ophthalmic Pathologist
Natasha van Poppelen, MD, PhD, Ophthalmologist, Ocular Oncology
Serdar Yavuzyigitoglu, MD, PhD, Ophthalmologist, Ocular Oncology
Jolanda Vaarwater, Ing, Senior Technician
Mike Wu, MSc, PhD candidate
Fabiana Bassil, MD, MSc, PhD Candidate
Kiki Bals, MSc, PhD Candidate
Bianca de Graaf, Ing, Senior Technician
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
Geert Geeven, PhD, Bioinformatics Specialist 
Daniel Bink, MBA, Sector Manager
Mario Redeker, Ing, ICT Specialist
Daniel de Jong, Ing, ICT Specialist
Debora Lont, Ing, Senior Quality Advisor at Erasmus MC