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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 > Cancer Risk

1
Overview
2
Cancer Risk
3
Risk Management
4
Cancer Treatment
5
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 determine the best risk management plan.

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. 


Risks for all people with a mutation

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

  • Renal (kidney): The lifetime risk for a person with a  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  mutation 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 for a person with a  mutation 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 polyps, which could become cancers. These may start at a young age. 
  • Melanoma: The lifetime risk for a women with a  mutation 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 (and those assigned female at birth) who have an inherited mutation 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
  • gender assigned at birth
  • specific mutation
  • personal and family health history
  • diet, exercise, lifestyle and other factors
Last updated July 03, 2022

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.  

  • NCT04770246: Using TAS-117 to Treat Advanced with Inherited Mutations. This study will look at how well the  TAS-117 works for treating people with an inherited  mutation and advanced or   (excluding primary brain tumors).
  • NCT02401347:  Beyond (TBB) Trial. The goal of the study is to evaluate the anti-cancer activity of (a type of treatment known as a ) in patients with advanced breast cancer with specific genetic mutations based on a blood, saliva, or tumor test. This study is open to people with inherited mutations , , , , , , , , ,  and other genes. 
  • NCT02665195:  Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes. 

updated: 03/17/2022