People with PHTS have a higher chance of developing some cancers, especially breast, thyroid, womb (endometrial), kidney, bowel (colorectal) cancer, and a type of skin cancer called melanoma. Because of this, doctors recommend regular surveillance, which means planned checks to look for cancer as early as possible.
At present cancer treatment for people with PHTS is similar to individuals with sporadic cancers. Until recently was unknown whether the outcome of cancer treatment in individuals with PHTS differed from the general population.
At the moment, there are no proven ways to prevent cancer in PHTS beyond regular monitoring, so researchers are trying to understand more about why cancer is so common in PHTS.
Project title: Cancer prognosis and treatment of PHTS patients
Type of study: Natural history/translational medicine
Lead researcher: Prof Nicoline Hoogerbrugge
Institution: Radboud University Medical Center, Nijmegen, Netherlands
Project start: January 2020 Completed: September 2025
To better understand how common different cancers are in PHTS and how they are treated.
For this study, over 500 people with PHTS who were diagnosed with cancer were identified. The prognosis of these individuals was assessed, with a focus on breast and thyroid cancer. Following diagnosis of cancer in an individual, data was collected for each individual on their treatment and the outcome of the treatment and cancer recurrences and metastases.
This project has now been completed.
The key results showed that the prognosis of PHTS-related cancers was no worse than for comparable cancers in the general population (sporadic cancers) and that standard cancer treatment is appropriate for individuals with PHTS with cancer.
The research also showed that lifestyle among individuals with PHTS is important as a healthier lifestyle (higher physical activity, lower alcohol consumption and tobacco smoking) could potentially decrease breast cancer risk in a similar way as for the general population.
The following publications have resulted from work associated with have resulted from work associated with this grant: