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CHEK2: Options for Managing Cancer Risk

People with a CHEK2 mutation have options for managing their cancer risk. Learn about the screening and prevention guidelines. Stay up to date by signing up for our community newsletter.

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Risk Management for People with Inherited Mutations

Experts at the National Comprehensive Cancer Network (NCCN) created guidelines for people with a CHEK2 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.

Breast cancer

Beginning Age	Recommendation	Additional Information
25 (or earlier based on youngest age of breast cancer in the family)	Breast awareness Learn to be aware of changes in your breasts and potential signs of breast cancer.
25 (or earlier based on youngest age of breast cancer in the family)	Clinical breast exam Breast exam by doctor every 6-12 months.	The guidelines recommend that people who have risk-reducing mastectomy continue to receive clinical breast exams.
30-35	Discuss screening Have a discussion with your doctor about the benefits, risks and costs of yearly breast with and without contrast.
40 (or earlier based on youngest age of breast cancer in the family)	Yearly .
No set age	Discuss risk-reducing options Discuss the benefits, risks and costs of medications to lower the risk for breast cancer with your doctor. More research is needed to show whether people with inherited 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.	Tamoxifen or other estrogen-blocking drugs may lower breast cancer risk. Medications and vaccines are being studied in clinical trials. 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. Clinical breast exam should be continued after risk-reducing mastectomy.
75	Discuss whether to continue screening Have a discussion with your doctor about whether to continue, stop or change breast screening.
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and , v. 1, 2027.

Male breast cancer

Currently there are no guidelines on male breast cancer screening for people with a mutation. Speak with your doctor about the benefits and risks of screening.

cancer

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.

Beginning Age	Recommendation
40	Discuss screening Have a conversation with your doctor about the potential benefits, risks, costs and limitations of screening for cancer. If you choose to have screening, the guidelines recommend an annual Specific Antigen () test. Many experts also recommend an annual digital rectal examination that allows your doctor to feel for abnormalities in the . Clinical trials looking at to screen for cancer are enrolling men with mutations.
75	Discuss whether to continue screening For men who have chosen to have cancer screening, have a discussion with your doctor about whether to continue, stop or change the timing of your screening.
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and , vs. 1, 2027.

Other cancers

There isn’t enough research to show that people with a mutation benefit from extra screening or prevention for other types of cancer. Because of this, experts recommend following general population screening guidelines and considering your family history when managing these risks. National guidelines exist for screening the following cancers: