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
|
|
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 |
|
PREVENTABLE
|
Dr. Carla Oliveira, i3S, Porto, Portugal |
Jan 2023 |
3 years |
|
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
|
|
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 |
pending |
|
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 |
pending |
|
EU-PEARL (EU-Patient Centric Clinical Trial Platforms)
- WP Neurofibromatosis
|
Dr. Rianne Oostenbrink, ErasmusMC |
pending |
|
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 |
doi.org/10.1016/j.ejmg.2022.104632
|
|
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
|