CHEK2 Gene Mutation

Information for People with an Inherited Mutation
What is ?
is a gene that helps repair damage to your . People who are born with changes—called mutations—in their CHEK 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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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.
Risk Management Options
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 Options
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
Prostate Cancer Genetic Risk Evaluation and Screening Study (PROGRESS)
Clinicaltrials.gov identifier: NCT05129605
Inherited Cancer Registry (ICARE): Contribute to Research While Staying Informed
Clinicaltrials.gov identifier: NCT03231891
Screening in Men at High Risk of Developing Prostate Cancer
Clinicaltrials.gov identifier: NCT05608694
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: NCT04042831