Periodic Reporting for period 1 - RESEMBLE (Long-read sequencing to resolve the missing heritability in patients suspected of PTEN hamartoma tumour syndrome)

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...