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Understanding Your Positive BARD1 Genetic Test Result

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

4 Things To Know

1 BARD1 mutation Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the BARD1 gene.
2 Cancer risks You have an increased chance to develop female breast cancer and possibly other cancers such as ovarian cancer. Cancer risk estimates for male BARD1 mutation carriers are not currently available.
3 What you can do There are risk management options to detect cancer early or lower your risk to develop cancer. It is important to discuss these options with your doctor, and decide on a plan that best manages your cancer risks.
4 Family Family members may also be at risk – they can be tested for the BARD1 mutation that was identified in you.

BARD1 Mutations in the Family

There is a 50/50 random chance to pass on a BARD1 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 BARD1 mutation No BARD1 mutation

Understanding Your Positive BARD1 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 BARD1 gene. Both of these results should be considered positive.
Gene BARD1 Everyone has two copies of the BARD1 gene, which we randomly inherit from each of our parents. Mutations in one copy of the BARD1 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 and possibly other cancers such as ovarian cancer. Cancer risk estimates for male BARD1 mutation carriers are not currently available.
Management Options for women Options for screening and early detection of cancer 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.
Risk Management varies Risk management decisions are very personal, and the best option depends on many factors. Screening typically begins earlier than in the general population, and is often done more frequently. 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 BARD1 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 BARD1 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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