CHEK2: Options for Managing Cancer Risk
Risk Management for People with Inherited Mutations
Experts at the National Comprehensive Cancer Network (NCCN) created guidelines for people with a mutation to manage their cancer risk. NCCN notes that some mutations (for example a mutation known as IIe157Thr) may be associated with lower breast cancer risks than other mutations. We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you decide on a plan to manage your risk. You can learn more about risk management options in our section on Screening and Risk Reduction by Cancer Type. Note that when we use "men" and "male" we are referring to people assigned male at birth. When we use the terms "women" and "female" we are referring to people assigned female at birth.
Beginning Age |
Recommendation |
Additional Information |
25 |
Learn to be aware of changes in your breasts. |
Based on NCCN guidelines for women of average risk. |
25 |
Breast exam by doctor every 1-3 years. |
Based on NCCN guidelines for women of average risk. |
30-35 |
Discuss the benefits, risks and costs of yearly breast MRI with and without contrast with your doctor. |
|
40 (or earlier based on family history of breast cancer) |
Yearly mammogram. |
|
No set age |
More research is needed to show whether people with inherited CHEK2 mutations benefit from risk-reducing mastectomy. Discuss with your doctor about the option of risk-reducing mastectomy based on your personal and family history of cancer. |
Risk-reducing mastectomy lowers breast cancer risk by 90%, but has not been shown to improve survival. Even after double mastectomy, some breast tissue, and therefore cancer risk remains. |
No set age |
Discuss the benefits, risks and costs of medications to lower the risk for breast cancer with your doctor. |
Tamoxifen or other estrogen-blocking drugs may lower breast cancer risk. Medications or vaccines are being studied in clinical trials. |
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 1 2025 |
cancer risk
Research suggests that mutations may also increase the risk for cancer. More research is needed to better define the exact risk for people with a mutation.
Researchers are testing new approaches to cancer screening and prevention for high-risk people through clinical trials.
cancer guidelines
Beginning Age |
Recommendation |
40 |
|
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 1 2025 |
Colon cancer screening and prevention
NCCN no longer recommends increased colorectal cancer screening for people with a mutation and no personal or family history of colorectal cancer. NCCN recommends following the same screening guidelines as people in the general population.
Other cancers
There has not been enough research to show a benefit from screening and prevention for other cancers in people who have a mutation. For this reason, experts recommend managing these risks based on your family history. Cancer screening and prevention research studies may be available.