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:
Ongoing research projects
Project title
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Project leaders
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Start date
|
Duration
|
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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 |
|
Role of MCM8/9 variants in (colorectal) cancer predisposition
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Dr. Maartje Nielsen, Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands |
Jun 2022 |
1 year |
|
CTNNA1 Variant Database
|
Dr. Carla Oliveira, i3S, Porto, Portugal |
Oct 2021 |
3 years |
Completed research projects
Project title
|
Project leaders
|
Publication
|
|
Solve-RD - solving the unsolved rare diseases
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Prof. Olaf Riess and Prof Holm Graessner, University of Tübingen, Tübingen, Germany |
pending |
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Cancer prognosis and treatment of PHTS patients
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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
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Dr. Richarda de Voer and Prof. Nicoline Hoogerbrugge, Radboudumc |
doi.org/10.1016/j.gim.2024.101101
|
|
CDH1 Variant Database
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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
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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
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Dr. Chrystelle Colas, Institut Curie |
doi.org/10.1136/jmg-2022-108740
|
|
Unravelling the PHTS-associated variant spectrum
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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
|