Hereditary Cancer and Genetic Testing

Cancer risk associated with an inherited PTEN mutation

If you have tested positive for a PTEN mutation, we recommend consulting with a genetics expert who can assess your personal and family history of cancer, and can help you determine the best risk management plan.

People with an inherited PTEN 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 PTEN mutation. 


Risks for women

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

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


Risks for men and women

Men and women who have a mutation in PTEN are at increased risk of developing these cancers: 

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

Graph of lifetime risk for breast cancer in women with a <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-pten'
                title='<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>
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            >PTEN</abbr> mutation     Graph of lifetime risk for endometrial cancer in person with a <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-pten'
                title='<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</abbr> mutation    

Graph of lifetime risk for thyroid cancer in a person with a <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-pten'
                title='<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</abbr> mutation     Graph of lifetime risk for kidney cancer in people with a <abbr
                data-toggle='tooltip'
                class='glossary-tip tt-pten'
                title='<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</abbr> mutation

find-support

If you are a person with an inherited PTEN mutation, you can find peer support through the following resources:

Support through other organizations:

Last updated September 21, 2021