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
Examination of phenotypic data in patients and families carrying the TP53 variant p.(Arg181His) or R181C variant for optimized surveillance strategies Karin Wadt (Rigshospitalet, Copenghagen) 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  pending
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