Hereditary Cancer and Genetic Testing

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 women

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

  • Breast cancer: The lifetime risk for a women with a  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  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  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. 

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

find-support find-support

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

updated: 03/12/2022

clinical-trials 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

Last updated March 17, 2022