What Is the CHEK2 Gene?
Checkpoint kinase 2, or CHEK2, for short, is a gene that normally helps with DNA repair. If you have a mutation, or variation, in this gene, you may be at an increased risk for developing cancer.
If You Carry a CHEK2 Mutation, What Cancers Are You at Risk For?
A CHEK2 mutation may make you more likely to have:
- Breast cancer
- Ovarian cancer
- Prostate cancer
- Colon cancer
- Kidney cancer
- Thyroid cancer
- Brain tumors
- Osteosarcoma
Scientists have also found that some people with a CHEK2 mutation develop Li-Fraumeni syndrome — a rare hereditary condition that’s usually associated with the TP53 gene. (1)
How Does CHEK2 Increase Your Risk for Cancer?
The CHEK2 gene gives your body instructions for making a protein called CHK2, which acts as a tumor suppressor. This means it keeps cells from growing and dividing too quickly.
When DNA becomes damaged or DNA strands break, the CHK2 protein works with other proteins, including TP53. Together, they thwart cell division, keeping cells with bad DNA from dividing.
When it’s mutated, it does not perform this function, and potentially cancerous cells are able to divide and reproduce themselves more readily. (1)
Can You Be Tested for CHEK2?
Yes, you can get a genetic blood test to see if you have a CHEK2 mutation. Your doctor might recommend testing if you have a family history of CHEK2 mutations, if you develop certain CHEK2-related cancers, or if you have other risk factors. (2)
Testing is usually not recommended to start until adulthood. (3)
Talk to your doctor if you have questions about genetic testing. Additionally, you may want to see a genetic counselor, who can explain your test results in detail.
Why Is It Important to Know if You Are at Risk for CHEK2?
Anyone with a family history of a CHEK2 mutation may also be at risk for having one.
If you have a mutation, there’s a 50/50 chance that you may pass it on to your son or daughter. (2)
Finding a mutation is important because it can help you understand your chances of developing cancer. For instance, the CHEK2 mutation can double your risk of breast cancer. (4)
History of the CHEK2 Gene: When Was It Discovered?
CHEK2 mutations were first linked to breast cancer in 1999. But few people were tested for it in the early 2000s or 2010s. Doctors have only recently started recommending genetic testing as they learn more about the role of this mutation in cancer development. Improvements in technology have also led to expanded testing. (3)
What Do You Do if You Test Positive for CHEK2
The knowledge that you have a CHEK2 mutation can help you and your doctor plan prevention strategies. You may also be able to identify at-risk family members who could have the mutation, too.
Having a CHEK2 mutation doesn’t mean that you will definitely develop cancer; it only puts you at an increased risk. (3)
If your test comes back positive, you might benefit from earlier cancer screenings. For instance, doctors may recommend that women with CHEK2 mutations start having yearly mammograms earlier than those without the mutation.
Talk to your doctor about when to begin and how often to continue cancer screenings. (5)