Gene Mutation CHEK2 and Cancer Risk Everyday Health MenuNewslettersSearch Cancer Gene Mutation CHEK2 and Cancer Risk By Julie Lynn MarksMedically Reviewed by Conor Steuer, MDReviewed: August 23, 2022Medically ReviewedCHEK2 increases your risk for a variety of cancers. Shutterstock 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 cancerOvarian cancerProstate cancerColon cancerKidney cancerThyroid cancerBrain tumorsOsteosarcoma 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) NEWSLETTERS Sign up for our Cancer Care Newsletter SubscribeBy subscribing you agree to the Terms of Use and Privacy Policy. Editorial Sources and Fact-Checking CHEK2. National Center for Biotechnology Information. August 12, 2022.Understanding Your Positive CHEK2 Genetic Test Result. Ambry Genetics.Cancer Genetics & Prevention: CHEK2 Check-In [PDF]. Dana-Farber Cancer Institute.Breast Cancer Risk Factors You Cannot Change. American Cancer Society. December 16, 2021.CHEK2: Risk Management. FORCE: Facing Our Risk of Cancer Empowered. March 14, 2022.Show Less The Latest in Cancer New Guidelines Recommend Best Uses of Acupuncture Massage and Other Non-Drug Treatments for Cancer PainLeading organizations say complementary therapies such as reflexology and hypnosis may provide pain relief for some cancers.By Susan K. TreimanOctober 4, 2022 Is Chemotherapy Bringing You Down Research shows that chemotherapy can cause depression. 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