Background

PTEN Hamartoma Tumour Syndrome (PHTS) Patient Registry

In April 2019 Cambridge University secured funding from the PTEN Research Foundation https://www.ptenresearch.org to create the UK’s first PTEN patient registry alongside the University of Edinburgh and University Hospitals Southampton. For more information, please use this link: https://www.phts.org.uk/

Research participation

To maximise the usefulness of the PTEN Registry we would ask you to participate and to consent to both: IHCAP study and RaDaR as these complement each other and are both very relevant to PTEN registration.

 

The Investigating Hereditary Cancer Predisposition (IHCAP) study

Chief Investigator Professor Marc Tischkowitz

The IHCAP study is a broad study aiming to increase our understanding of how genetic conditions lead to complications such as cancer. If you decide to take part, you will be asked to provide some details about yourself and, to the best of your knowledge, about any cancers running in the family. In this study, we may ask you to give a blood sample, saliva sample or (very rarely) a skin sample, which we will use to extract your genetic material (called DNA) to analyse for any alterations/changes in genes that may be link to cancer.

The National Registry of Rare Kidney Diseases (RaDaR)

The PTEN registry uses the RaDaR database to collect information about PHTS symptoms. Please note that this is an NHS-supported database focussed on kidney problems. We mainly use RaDaR platform to collect information about PHTS related symptoms, as there is an increased risk of kidney cancer in PHTS. Hence we have added PHTS to the list of conditions covered by RaDaR. Most people with PHTS do not have any problems with their kidneys, but we still ask that you complete the RaDaR part of the registry as it is very relevant and important.

 

Patient benefits of joining PTEN registry and RaDaR

• Improve understanding of PHTS
• Improve patient outcome, treatment and symptom management for PHTS
• Develop multidisciplinary approaches to predict PHTS complications for people
• Provide evidence to support treatment guidelines

How to register

For further details on how to participate please contact the Study Coordinator Katerina Stroud on phone: 01223 746716 or email: Katerina.stroud2@nhs.net or add-tr.phts@nhs.net

To register your interest in participating and to obtain a study recruitment pack (containing an invitation letter, information about the study, a consent form, a family history questionnaire and a pre-paid envelope to return the signed consent form) please email your details to add-tr.phts@nhs.net