Research projects and publications

At a glance a summary of our key research activities are as follows:

Foundation at a glance_16Apr24.jpg Image

As of April 2024 a total of approximately £19.5 million in funding has been committed for research, with individual funding in the range of £10,000 – £1,000,000+, and we are actively seeking new funding applications.

On this page is a summary of our current and completed projects with links to case studies, and a list of publications.

Current projects include:

Type of study: Interventional clinical trial

Description: Phase II, 1-year, open-label, pilot study to examine the effects of sirolimus on colon polyp burden in Cowden syndrome. NCT04094675

Past projects include:

Type of study: Various

Description: PHTS registry and biorepository, Longitudinal study, Stem cells, Mouse Models and Eye Tracking in ASD.


  • Yehia et al. PTEN-opathies: from biological insights to evidence-based precision medicine. J Clin Invest. 2019 Feb 1;129(2):452-464. doi: 10.1172/JCI121277
  • Yehia et al. PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation? Hum Mol Genet. 2020 Oct 20;29(R2):R150-R157. doi: 10.1093/hmg/ddaa127
  • Mighell et al. An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships. Am J Hum Genet. 2020 Jun 4;106(6):818-829. doi: 10.1016/j.ajhg.2020.04.014
  • Yehia et al. Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations. JAMA Netw Open. 2020 Jan 3;3(1):e1920415. doi: 10.1001/jamanetworkopen.2019.20415
  • Jia et al. Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome. JCO Precis Oncol. 2021 Feb 9;5:PO.20.00374. doi: 10.1200/PO.20.00374
  • Yehia et al. Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations. NPJ Genom Med. 2022 Mar 3;7(1):16. doi: 10.1038/s41525-022-00289-x


Listed here are publications that are associated with the projects identified above, or for related activities in which PTEN Research (or its forerunner organisation) have been acknowledged.