Research projects

Overview of ongoing and completed collaborative ERN GENTURIS research projects

Please see below for a list of ongoing research projects as well as a list of completed research projects in which at least two ERN GENTURIS HCPs from different countries are participating, and which are primarily led by an ERN GENTURIS member.
All ERN GENTURIS members as well as ERN GENTURIS ePAGs can present a project or an idea proposal or a study concept. For the procedure, see point 4 of the ERN GENTURIS rules of research governance.

 

Ongoing research projects

Project title
Project leaders
Start date
Duration
Extracolonic cancer risk in MUTYH-associated polyposis (MAP) Maartje Nielsen, Laura Thomas and Salwa Ben Yahia March 2026 2 years
Characterization of RPS20 germline variants in early-onset colorectal cancer families Maartje Nielsen, Noah Helderman and PhD student Salwa Ben Yahia Sep 2025 1 year
The somatic mutational landscape of BLM-deficient tumours: finding clues for future therapeutic opportunities Richarda de Voer and colleagues from Radboudumc, Ramsey Bowden July 2025 2 years
Assessment for breast cancer risk prediction using the combined risk coming from both polygenic risk score (PRS) and rare variants Alessandra Renieri May 2025 2 years
Genetic counselling following recurrent sperm donation from a mosaic TP53 carrier Edwige Kasper (CHU Rouen) June 2024 TBD
Description of phenotypic data in patients and families carrying low penetrant TP53 variants for optimized surveillance strategies. Karin Wadt (Rigshospitalet, Copenhagen) and Svetlana Lagercrantz (KI, Sweden) December 2024 TBD
Cancer risk associated with NF1 microdeletion, epidemiological case-series Sirkku Peltonen, HUS Helsinki University Hospital, Hospital District of Helsinki and Uusimaa (GENTURISFINSN) consortium 2021 5 years

 

 Completed research projects

Project title
Project leaders
Publication
PREVENTABLE Dr. Carla Oliveira, i3S, Porto, Portugal See ERN GENTURIS publications - General
Role of MCM8/9 variants in (colorectal) cancer predisposition Dr. Maartje Nielsen, Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands doi.org/10.1016/j.xhgg.2025.100480
CTNNA1 Variant Database Dr. Carla Oliveira, i3S, Porto, Portugal See ERN GENTURIS publications - Diffuse Gastric and Lobular Breast Cancer Syndrome (DGLBC)
Solve-RD - solving the unsolved rare diseases Prof. Olaf Riess and Prof Holm Graessner, University of Tübingen, Tübingen, Germany List of Solve-RD publications
Cancer prognosis and treatment of PHTS patients Dr. Janet Vos and Prof. Nicoline Hoogerbrugge, Radboudumc See papers by Hendricks, et al. on our publications page
EU-PEARL (EU-Patient Centric Clinical Trial Platforms) - WP Neurofibromatosis Dr. Rianne Oostenbrink, ErasmusMC See papers by Dhaenens et al. on our publications page
The multiple primary cancer phenotype of individuals with a biallelic pathogenic variant in CHEK2 Dr. Richarda de Voer and Prof. Nicoline Hoogerbrugge, Radboudumc

doi.org/10.1016/j.gim.2024.101101

CDH1 Variant Database Dr. Carla Oliveira, Porto Comprehensive Cancer Centre doi.org/10.1016/S1470-2045(22)00643-X
Finding the Missing Heritability in Lynch Syndrome: Germline Variant Analyses of Mismatch Repair Genes by Long-Read Single-molecule Real-time Sequencing Dr. Richarda de Voer, Radboudumc doi.org/10.1053/j.gastro.2022.08.041
Estimations of diffuse gastric cancer risks in CTNNA1 pathogenic variants carriers Dr. Chrystelle Colas, Institut Curie doi.org/10.1136/jmg-2022-108740
Unravelling the PHTS-associated variant spectrum Dr. Janet Vos and Prof. Nicoline Hoogerbrugge, Radboudumc See papers by Ane Schei-Anderson et al.on our publications page
Toward a more accurate cancer risk assessment in germline PTEN mutation carriers Dr. Janet Vos and Prof. Nicoline Hoogerbrugge, Radboudumc doi.org/10.1093/jnci/djac188