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Cancer Risk
Read about different genes that are linked to hereditary cancer, their associated risks and guidelines for screening, preventing and treating cancers in people with inherited mutations in these genes.
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Hereditary Cancer and Genetic Testing > Hereditary Cancer Genes and Risk > By Gene Mutation > PTEN (Cowden syndrome) > Cancer Risk

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Overview
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Cancer Risk
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Risk Management
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Cancer Treatment
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Other Considerations

Cancer risk associated with an inherited  mutation

If you have tested positive for a  mutation, we recommend consulting with a genetics expert who can assess your personal and family history of cancer, and can help you decide on a plan to manage your cancer risk.

People with an inherited  have a greatly increased lifetime risk of developing several types of cancer, with about an 85 percent lifetime risk for developing any cancer. The risks for cancer tend to happen at a younger age compared to people who do not have a mutation. Note that "women" refers to the sex you were assigned at birth.

Risks for all people with a mutation

People who have a mutation in  are at increased risk of developing these cancers: 

  • Renal (kidney): The lifetime risk is about 30 - 35 percent compared to 1-2 percent for an average risk person. 
  • Thyroid: The lifetime risk is about 35 percent compared to 1 percent for an average risk person. People with inherited mutations are also at increased risk for benign thyroid conditions (e.g., goiter and benign growths)
  • Colorectal: The lifetime risk is about 5 - 10 percent compared to 4 percent for an average risk woman. Most people with inherited mutations will develop colorectal and other gastrointestinal , which could become cancers. These may start at a young age. 
  • Melanoma: The lifetime risk is about 6 percent compared to 2.5 percent for an average risk person. People with mutations may develop melanoma at a young age. 

Risks for women 

Women who have an in  have an increased lifetime risk for these cancers:

  • Breast cancer: The lifetime risk with a  mutation is about 40 - 60 percent compared to 12.5 percent for those at average risk. The average age of diagnosis is 38 - 50 years, compared to 55 - 64 years for those at average risk.
  • Endometrial cancer: The lifetime risk with a  mutation is about 25 - 30 percent compared to 3 percent for those at average risk.  
     

Graph of lifetime risk for breast cancer in women with a <button x-data class='glossary-tip tt-pten' x-tooltip='<p>PTEN is a gene found on chromosome 10.&nbsp;Mutations in PTEN&nbsp;increase the risk for&nbsp;certain cancers, including breast, uterine, thyroid, colon, kidney, melanoma and possibly other cancers. PTEN mutations may also cause Cowden Syndrome, which is also associated with benign (noncancerous) tumors in the thyroid (goiter), uterus (fibroids), and gastrointestinal tract (polyps).&nbsp; There can also be an excess of autism and autism-like features in PTEN families.</p> <p>Also see Cowden's Syndrome.</p> ' >PTEN</button> mutation     Graph of lifetime risk for endometrial cancer in person with a <button x-data class='glossary-tip tt-pten' x-tooltip='<p>PTEN is a gene found on chromosome 10.&nbsp;Mutations in PTEN&nbsp;increase the risk for&nbsp;certain cancers, including breast, uterine, thyroid, colon, kidney, melanoma and possibly other cancers. PTEN mutations may also cause Cowden Syndrome, which is also associated with benign (noncancerous) tumors in the thyroid (goiter), uterus (fibroids), and gastrointestinal tract (polyps).&nbsp; There can also be an excess of autism and autism-like features in PTEN families.</p> <p>Also see Cowden's Syndrome.</p> ' >PTEN</button> mutation    

Graph of lifetime risk for thyroid cancer in a person with a <button x-data class='glossary-tip tt-pten' x-tooltip='<p>PTEN is a gene found on chromosome 10.&nbsp;Mutations in PTEN&nbsp;increase the risk for&nbsp;certain cancers, including breast, uterine, thyroid, colon, kidney, melanoma and possibly other cancers. PTEN mutations may also cause Cowden Syndrome, which is also associated with benign (noncancerous) tumors in the thyroid (goiter), uterus (fibroids), and gastrointestinal tract (polyps).&nbsp; There can also be an excess of autism and autism-like features in PTEN families.</p> <p>Also see Cowden's Syndrome.</p> ' >PTEN</button> mutation     Graph of lifetime risk for kidney cancer in people with a <button x-data class='glossary-tip tt-pten' x-tooltip='<p>PTEN is a gene found on chromosome 10.&nbsp;Mutations in PTEN&nbsp;increase the risk for&nbsp;certain cancers, including breast, uterine, thyroid, colon, kidney, melanoma and possibly other cancers. PTEN mutations may also cause Cowden Syndrome, which is also associated with benign (noncancerous) tumors in the thyroid (goiter), uterus (fibroids), and gastrointestinal tract (polyps).&nbsp; There can also be an excess of autism and autism-like features in PTEN families.</p> <p>Also see Cowden's Syndrome.</p> ' >PTEN</button> mutation

It is important to note that cancer risks are estimates over the course of a person's lifetime. Your lifetime risk and risk over the next five years will vary depending on:

  • current age
  • sex assigned at birth
  • specific mutation
  • personal and family health history
  • diet, exercise, lifestyle and other factors
Last updated February 27, 2023

Get Support
Get Support

FORCE offers many peer support programs for people with inherited mutations. 

updated: 08/06/2022

Related Resources
Related Resources

The following resources include information on  mutations. 

updated: 03/17/2022

Open Clinical Trials
Open Clinical Trials

The following are studies enrolling people with inherited mutations.  

updated: 05/30/2023