Study Participation – What it involves
Participation will be straightforward and won’t take up much of your time. If you would like to take part please see below:
People are eligibile if they have one or more of the following:
- Known PHTS/PTEN gene mutation
- Diagnosis of Cowdens Syndrome
- Diagnosis of Bannayan Riley Ruvulcaba Syndrome (BRRS)
To participate in the PHTS Registry we would ask that you consent to IHCAP and RaDaR.
IHCAP – Investigating Hereditary Cancer Predisposition study is a broad study aiming to increase our understanding of how genetic conditions lead to complications such as cancer.
RaDaR – RaDaR is an NHS-supported database focussed on kidney disease. As there is an increased risk of kidney cancer in PHTS we have added this to the list of conditions covered by RaDaR. Please click here to visit RaDaR.
Both the above studies complement each other and by using them in combination we can maximise the usefulness of the Registry.
We will need details of your genetic testing history, if you don’t have this, we can request the information from your genetic centre. We do not yet offer genetic testing, so we can only accept participants who have been diagnosed by genetic testing.
We will ask information about your basic personal details, PHTS diagnosis and mutation, PHTS manifestations and clinical information (including preventative / treatment surgeries). You will also be asked to provide a DNA sample (or we will obtain some of the stored sample held in the lab) and complete a family history questionnaire. All data will be anonymised and kept securely. Lastly, we ask that you keep us up to date with any health changes / new diagnoses etc.
The study is based at Addenbrooke’s hospital in Cambridge, however, you will not be asked to travel. All correspondence can be done via your local hospital, post, email and telephone. To contact us for more information or to sign up for the study please click here.