CHEK2 Gene Mutation
Information for People with an Inherited CHEK2 Mutation
What is ?
is a gene that helps repair damage to your . People who are born with changes—called mutations—in their gene have an increased risk for certain types of cancer.
Which cancers are associated with a mutation?
People with an in have an increased risk for certain cancers, including:
- breast cancer in women
- male breast cancer
mutations have also been linked to an increased risk for and other cancers, but more research is needed to confirm this.
Does everyone with a mutation develop cancer?
Although the lifetime risk for cancer with a mutation is higher than average, not everyone with the mutation develops cancer. Following the guidelines for screening and prevention increases the chances of preventing cancer or catching it at its earliest and most treatable .
What can people do if they are positive for a mutation?
People with a mutation may have options for screening, prevention and treatment for . There are expert guidelines and clinical trials that focus on:
- screening and early detection
- risk-reduction
- treatment
These guidelines are based on the most current research and updated yearly. People who test positive for a mutation should speak with a genetics expert to make sure that their medical care is based on the most up-to-date information.
If you test positive for a mutation, you should inform your close blood relatives (first-, second-, and third-degree relatives) about your test results and encourage them to speak with a genetics expert.
Can mutations skip a generation?
mutations are passed down from parents to children, but they do not skip generations. Each person with a mutation has a 50% chance of passing their mutation on to each of their children. Children who did not inherit their parent's mutation cannot pass the mutation to their children.
People with a mutation who never develop cancer can still pass their mutation on to their children. A child who inherits their parent's mutation will be at increased risk for cancer.
More detailed information for people with inherited mutations is highlighted below.
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More Information for People with a Mutation
Cancer Risks
Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with inherited CHEK2 mutations.
Screening & Prevention
Read about expert guidelines for cancer screening and prevention for people with a CHEK2 mutation. Learn about research studies enrolling high-risk patients.
Cancer Treatment
Tumor testing and genetic testing can provide clues about which treatments may work best for your cancer. People with a CHEK2 mutation may have additional treatment or clinical trial options.
Participate in Prevention Research
The screening and prevention studies below are enrolling people with mutations. To search for more studies, visit our Search and Enroll Tool.
Screening Study for Men at High Genetic Risk for Prostate Cancer
Clinicaltrials.gov identifier: NCT03805919
Screening in Men at High Risk of Developing Prostate Cancer
Clinicaltrials.gov identifier: NCT05608694
Low Dose Tamoxifen With or Without Omega-3 Fatty Acids for Breast Cancer Risk Reduction
Clinicaltrials.gov identifier: NCT06195306
Participate in Treatment Research
The treatment studies below are enrolling people with mutations. To search for more studies, visit our Search and Enroll Tool.
Clinicaltrials.gov identifier: NCT05011383
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.
Get Help Locating Resources
Connect with a trained volunteer who can help you navigate the decisions you face about hereditary cancer or cancer risk.
Learn More About Hereditary Cancers
Visit our section with in-depth information on screening, prevention or treatment of different types of cancer.