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Understanding Your Positive CHEK2 Genetic Test Result

Information for patients with a pathogenic mutation or variant, likely pathogenic

4 Things To Know

1 CHEK2 mutation Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the CHEK2 gene.
2 Cancer risks You have an increased chance to develop female breast cancer, colorectal cancer, and possibly other cancers.
3 What you can do There are risk management options to detect cancer early or lower the risk to develop cancer. It is important to discuss these options with your doctor, and decide on a plan that best manages cancer risks.
4 Family Family members may also be at risk – they can be tested for the CHEK2 mutation that was identified in you.

CHEK2 Mutations in the Family

There is a 50/50 random chance to pass on a CHEK2 mutation to your sons and daughters. The image to the right shows that both men and women can carry and pass on these mutations.

Asset 1 Has CHEK2 mutation No CHEK2 mutation

Understanding Your Positive CHEK2 Genetic Test Result

Information for patients with a pathogenic mutation or variant, likely pathogenic

Result mutation Your testing shows that you have a pathogenic mutation (a disease-causing change in the gene, like a spelling mistake) or a variant that is likely pathogenic in the CHEK2 gene. Both of these results should be considered positive.
Gene CHEK2 Everyone has two copies of the CHEK2 gene, which we randomly inherit from each of our parents. Mutations in one copy of the CHEK2 gene can increase the chance for you to develop certain types of cancer in your lifetime.
Cancer Risks Increased You have an increased chance to develop female breast cancer (around twice as high as the average woman), colorectal cancer, and possibly other cancers such as male breast cancer, prostate, thyroid, ovarian, or kidney.
Management Options for women Options for early detection and prevention for women depend on your family history of cancer and may include: breast exam, mammogram, breast MRI, and options for preventive surgery. Talk to your doctor about what options may be right for you.
Management Options for men & women Options for early detection and prevention for both women and men depend on your family history of cancer and may include colonoscopies, comprehensive physical exams, or other screening options. Talk to your doctor about what options may be right for you.
Risk Management varies Risk management decisions are very personal, and the best option depends on many factors. Screening typically begins earlier than the general population and is often more frequently performed. It is important to discuss these options with your doctor.
Family Members 50/50 chance Your close relatives (like your parents, brothers, sisters, children) have a 50/50 random chance of inheriting the CHEK2 mutation that you carry, and other family members (like your aunts, uncles, cousins) may also inherit it. Your relatives can be tested for this same mutation. Depending on the family history, those who DO NOT have it may not have an increased chance (above the general population) to develop cancer.
Next Steps discuss It is recommended that you share this information with family members so they can learn more and discuss this with their healthcare providers.
Reach Out resources

Please discuss this information with your healthcare provider. The cancer genetics field is continuously evolving, so updates related to your CHEK2 result, medical recommendations, and/or potential treatments may be available over time. This information is not meant to replace a discussion with a healthcare provider, and should not be considered or interpreted as medical advice.

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