I have a PTEN mutation. What happens now?

Once you have tested positive for an altered PTEN gene, your doctor will most likely want to get detailed information about your family medical history and order some more tests to explore the extent to which you show the physical symptoms of PHTS.

This could include a physical examination of your skin, tongue, thyroid and breasts; a urine analysis, and screens of your breasts, uterus, thyroid, kidneys and bowel, using procedures such as a mammogram or a colonoscopy.

In children, tests can be done to identify developmental issues.

How is PHTS treated?

There is currently no cure for PHTS. People with an altered PTEN gene undergo screening tests to monitor for signs of cancer for the rest of their lives. Identifying cancer as early as possible increases the chance that it can be successfully treated.

The type, frequency and age the screening tests begin varies according to family history and the clinical guidelines used in the country. In the UK, doctors follow guidelines agreed by the Cancer Genetics Group, a constituent group of the Clinical Genetics Society and British Society of Genomic Medicine. In the US, doctors follow the National Comprehensive Cancer Network (NCCN) guidelines for managing PHTS.

For more information, see:

CGG Guidelines (UK) 

NCCN Guidelines (US). You will need to create a free login to view. 
Alternatively, download a PDF version here.

Breast examination

Women are encouraged to self-examine their breasts on a monthly basis. Some opt to have their breasts and/or uterus surgically removed to reduce the risk of breast and endometrial cancers. This is an option for women whose breast tissue is particularly dense, making breast screens difficult, or who have had to have repeated biopsies.

Skin treatment

The skin characteristics of PHTS can be treated in the same way as those unrelated to PHTS. However, if they are benign and aren’t causing pain or deformity it is recommended that they are left alone.

Which medical professionals will I see?

Because the symptoms of PHTS are so varied, different people will see different medical professionals at different times of their life. The doctors involved might include a clinical geneticist, speciality physicians in the areas of high-risk breast care, endocrinology, neurology, gynaecology, oncology, dermatology, and gastroenterology.

If a child is affected by PHTS, a developmental or community paediatrician may be involved alongside other specialists who might include a paediatric neurologist and a paediatric gastroenterologist. A speech therapist, physiotherapist and occupational therapist might be involved to support the child’s development.

What does a diagnosis mean for my family?

A diagnosis of PHTS may have implications for your existing family and any children you have.

You may have inherited the altered PTEN gene from either one of your parents. If this is the case, they, your siblings and other close relatives might also be carriers of the mutation. You should inform them of your result so that they can speak to their doctor about getting a gene test regardless of whether they show any of the physical symptoms. If their gene test is negative, they do not have PHTS or its associated health risks.

Alternatively, you might be the first in your family to carry the gene. This is known as a ‘de novo’ mutation. Regardless, if you or your partner have a mutation in the PTEN gene, you have a 50 percent, or 1 in 2, chance of passing it on to any child you have. Please talk to your healthcare provider about what this might mean.

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Patient support

Patient groups and blogs provide support and a way to connect with others with PHTS

PTEN UK&I

The PTEN Foundation (US)

PTEN World (US)

Beating Cowden’s (US; blog)

PTEN Italia (Italy)

CoBaLD (Germany)

This content has been reviewed by Robert Pilarski MS lGC MSW, a licenced Genetic Counsellor and Professor of Clinical Internal Medicine at the Ohio State University Comprehensive Cancer Center.

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