What are the health risks of PHTS?

Putting the risk in context

Although the chance of getting certain types of cancer is higher for people diagnosed with PHTS, it is important to put the risk in context. Regardless of genetic make-up, everybody is at risk of getting some form of cancer over their lifetime.

For example, one in eight men will develop prostate cancer and one in eight women will develop breast cancer at some point. That is the same as saying that an individual woman’s lifetime risk of developing breast cancer is 12 percent.

The range of cancer risk estimates for people with PHTS is given below and represent the estimates from four independent studies. The figures are based on the current available published data (see box below for more information).

As research continues these figures will be refined to provide more accurate cancer risk estimates in PHTS patients. Click here to read more about why research into PHTS is important.

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Cancer risk estimates

Cancer type Lifetime risk of developing cancer in the general population1 Lifetime risk of developing cancer with PHTS2
Breast (females) 12% 67.3% - 85.2%
Thyroid 1% 21% - 38%
Endometrial (females) 2.6% 19% - 28.2%
Kidney 1.6% 15% - 33.6%
Colorectal 5% 9%*
Melanoma (skin) 2% 6%*


*Estimates are derived from a single source.
  1. Lifetime risk estimates calculated by the Statistical Information Team at Cancer Research UK. Based on data provided by the Office of National Statistics, ISD Scotland, the Welsh Cancer Intelligence and Surveillance Unit and the Northern Ireland Cancer Registry, on request, December 2013 to July 2014.
  2. Range of lowest and highest reported average estimates from: Tan M-H, et al. Lifetime Cancer Risks in Individuals with Germline PTEN Mutations. Clinical Cancer Research. 2012;18(2):400-407.; Nieuwenhuis, M.H., et al. Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome. Familial Cancer (2014) 13: 57.; Bubien V, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. Journal of Medical Genetics 2013;50:255-263.; Riegert-Johnson DL, et al. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hereditary Cancer in Clinical Practice. 2010;8(1):6.

Where do the cancer risk figures come from?

Since 2000, a number of institutions around the world have conducted studies to estimate the cancer risk for people with Cowden syndrome and PHTS. The health of these people, along with relatives who were found to have PTEN mutations, was recorded – as was the incidence of cancer.

By comparing information from different people, researchers were able to estimate the risk of developing specific cancers during the lifetime of a PHTS patient (typically up until the age of 60 or 70).

However, it is important to highlight that these figures are derived from relatively small sample sizes and the presence of ascertainment bias may inflate estimates. It is also possible that differences in the patient cohorts and the study methodology may explain some of the variation.

Other health risks

People with PHTS are also more likely to develop:

Lhermitte-Duclos disease

This is a rare benign tumour in the cerebellum, the part of the brain at the nape of the neck that plays a role in coordination of movement. It may cause headaches, vision problems or issues with balance, for example.

Benign thyroid nodules or cysts

These are lumps sometimes filled with fluid. Occasionally these might cause pain in the neck, jaw or ear, or if they are large enough, difficulty swallowing. A PTEN mutation is also associated with an enlarged thyroid called a goiter.

For more information, see:

'On diagnosisfrom the PTEN UK&I patient group

PTEN Hamartoma Tumor Syndrome, Cowden Syndrome, and Bannayan-Riley-Ruvalcaba Syndrome from the Cleveland Clinic

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