Case Study: Cancer outcomes in PHTS - following what happens over time

Key facts

Lead researcher: Professor Nicoline Hoogerbrugge, MD PhD

Institution: Radboud University Medical Centre, Nijmegen, Netherlands

Type of research:  Study of people with PHTS – cancer outcomes

What do we hope this research will tell us?

People with PHTS are at high risk of several cancers, such as thyroid, and for females, breast and  endometrial cancer. Currently most people with PHTS related cancer receive the same treatment as people with the same type of cancer who do not have PHTS. However, there is some evidence to suggest that PHTS-related cancers may be better treated using a more personalised treatment approach. 

As a first step to identifying better treatment options for PHTS-related cancer, we need a more detailed understanding of how different cancers develop over time in people with PHTS, how they are currently being treated, how they are responding to these treatments, and how factors such as age at diagnosis of cancer might affect the outcome.

This research will put doctors in a stronger position to advise people with PHTS of their individual cancer risk, and to make recommendations on the best approaches to manage cancer when it occurs.

What does it involve?

Professor Hoogerbrugge was the lead researcher for an earlier project funded by PTEN Research, which established a study group of hundreds of people with PHTS from across Europe. These individuals volunteered to allow access to their medical records and to complete questionnaires to help Professor Hoogerbrugge and her team better understand the natural history of PHTS. If you are interested in participating in this study, please visit the INSPECT study website for more information.

From a sub-group of these individuals who have had a diagnosis of cancer, we will collect detailed information on all aspects of their cancer diagnosis, tumour type and treatment.

  • It inspires me as a medical doctor that the unique collaboration between patients and professionals who are collecting data from all over Europe, can be the start of an improved cancer treatment for PHTS patients and thus may affect the lives of many families.

    Professor Nicoline Hoogerbrugge