PHTS-spectrum - Apr 2020

Project title:
Unravelling the PHTS-associated variant spectrum

Project leader(s):
Dr. Janet Vos and Prof. Nicoline Hoogerbrugge, Radboudumc

Project Description:
Many different germline variants in the gene of PTEN have been identified so far in PHTS patients. However, a clear overview of the spectrum of pathogenic variants remains absent while such an overview combined with additional analyses, can give great insight into the underlying mechanism of disease. In this project we collected and analysed information about PTEN germline variants and phenotype of PHTS patients.

Contributions by 20 ERN GENTURIS Full Members and Affilliated Partners, and one Supporting Partner from the UK.

Start date: April 2020

Duration: 1 year

Funder: -

Link study page: -