PUBLISHED: 18th June 2025
The POLD1 and POLE genes are tumor suppressors. They help prevent cancer when cells divide. A mutation in one of these genes may disable this function.
What are the risks of cancer for people with a POLD1 or POLE mutation?
Having a mutation in a POLD1 or POLE gene increases the risk of developing polyps in your colon and rectum. These polyps can lead to an increased risk of colorectal cancer. These mutations can also cause polyps in your stomach and upper GI tract.
People with a POLD1 or POLE mutation may also have an increased risk of other cancers, such as endometrial, ovarian, brain and cancer in the gastrointestinal tract GI. More research is needed to better understand these risks.
| Cancer type | Lifetime risk with a POLD1 or POLE mutation | Lifetime risk for general population |
| Colon cancer | > 20% | 4% |
What can people with a POLD1 or POLE mutation do?
Expert guidelines provide screening recommendations for colorectal cancer in people with a POLD1 or POLE mutation.
People with inherited mutations in POLD1 or POLE may also qualify for specific treatments or clinical trials.
Cancer risk management for people with POLD1 and POLE mutations
People with POLD1 and POLE mutations have options for managing their increased risk of colon cancer. Expert guidelines can help them manage this risk.
If you have a POLD1 or POLE 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 risk.
NCCN guidelines for colon cancer are summarized below.
Colorectal cancer risk management
| Beginning age | Recommendation | Additional Information |
| 25-30 or 2-5 years prior to the earliest colorectal cancer in the family | - Colonoscopy every 2-3 years if no polyps are found - Colonoscopy every 1-2 years if polyps are found - Consider risk-reducing surgery if you develop too many polyps to manage with colonoscopy | Based on NCCN guidelines |
Colorectal cancer treatment
Colorectal cancers may have a tumor mutation in POLD1 or POLE. Research shows that people with these mutations may have a better tumor response and better survival when treated with immune checkpoint inhibitors.
You can learn more about targeted or immunotherapy treatment for colorectal cancer here.
Ask your doctor
If you or a family member has a mutation in POLD1 or POLE, consider asking your doctor the following:
- What symptoms should I watch for?
- Are there new treatments or clinical trials I should know about?
As we learn more about these mutations, we may learn that they also increase the risk for other cancers. Your genetic counselor will give you more information about your cancer risk.