CHEK2 Gene Mutations: Cancer Risk
Cancer Risks Associated with Inherited Mutations
Cancer risks may vary based on your specific mutation and family history. 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 can help you choose the best plan for managing your cancer risk.
|
Cancer Type |
Lifetime Risk with a Mutation |
Lifetime Risk for General Population |
Notes |
|
23 - 27% |
12.5% |
Different mutations are linked to different levels of breast cancer risk. The mutations listed below are associated with a lower increase in breast cancer risk than many other mutations. People with these mutations may have a lifetime breast cancer risk of less than 20%. Ile157Thr |
|
|
Risk for 2nd breast cancer diagnosis in women who were previously diagnosed with breast cancer |
6-8% risk within 10 years of initial diagnosis |
|
|
|
Male breast cancer |
May be increased |
0.1% |
More research is needed to confirm this risk. |
|
cancer |
May be increased |
13% |
More research is needed to confirm this risk. |
|
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate; v.1 2027; Cancer Stat Facts: Cancer. National Cancer Institute. Bethesda, MD. |
|||
Other cancer risks for people with a mutation
In the past, the NCCN guidelines listed colorectal cancer as increased for people with a mutation. NCCN has updated their guidelines to indicate no increased risk for colorectal cancer with a mutation. Some research has linked mutations to other cancer risks, such as thyroid cancer. More research is needed to prove these links.
It is important to note that cancer risks are estimates over the course of a person's lifetime. Your lifetime risk and risk over the next five years will vary depending on your:
- current age.
- sex assigned at birth.
- specific type and location of mutation on the gene.
- personal and family health history.
- diet, exercise, lifestyle and other factors.
Participate in Research
More Resources
Learn More About Hereditary Cancers
Visit our section with in-depth information on screening, prevention or treatment of different types of cancer.
Get Help Locating Resources
Connect with a trained volunteer who can help you navigate the decisions you face about hereditary cancer or cancer risk.
Find Compassionate Support
Making treatment decisions may feel overwhelming or isolating. You don't have to face this alone. Find support from people who have been there and understand.
