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PTEN Gene Mutations: Cancer Risks

People with an inherited mutation in the PTEN gene have an increased risk for certain types of cancer. Learn about these risks. Stay up to date by signing up for our community newsletter.
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Cancer Risks Associated with Inherited Mutations

People with an inherited  have a greatly increased lifetime risk of developing several types of cancer. A person with a mutation has about an 85 percent chance for developing any type of cancer in their lifetime. The risks for cancer tend to happen at a younger age compared to people who do not have a mutation. 

If you have tested positive for an inherited mutation, we recommend that you speak with a genetics expert who can look at your personal and family history of cancer and help you decide on a plan for managing your cancer risk. 

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

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

Note that when we use "men" we are referring to people assigned male at birth. When we use "women" we are referring to people assigned female at birth.

Cancer Type

Risk to Age 80 with a CDH1 Mutation

Lifetime Risk for General Population

Breast cancer in people assigned female at birth

41% - 60%

12.5%

Endometrial cancer

28%

3.1%

Thyroid cancer (and benign thyroid growths)

35%

1%

Kidney cancer

up to 34%

1 - 2%

Colorectal

9 - 20%

2.4%

Melanoma

6%

2.5%

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric; v1. 2 2024

In the News

Visit our Partner

PTEN Hamartoma Tumor Syndrome Foundation

The PTEN Hamartoma Tumor Syndrome Foundation offers support, research and resources for people with inherited PTEN mutations.

Last updated August 31, 2024