CORDIS Project
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This project aims to enhance the diagnosis of PTEN hamartoma tumour syndrome (PHTS) by developing a long-read sequencing method to identify genetic variants in patients with PHTS-like conditions. The goal is to uncover novel genetic mechanisms and improve personalized care for affected individuals and their families.
Individuals with a genetic tumour risk syndrome are at high risk to develop cancer.
One of these syndromes is PTEN hamartoma tumour syndrome (PHTS). PHTS is associated with pathogenic variants (PVs) in the PTEN gene.
Unfortunately, in the majority of patients suspected of PHTS no PV in PTEN is identified.
These patients are considered PHTS-like.
The low diagnosis rate in this group of patients suggests the possibility of PVs in regions of PTEN that are not covered in routine diagnostics or sugge…
STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM
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