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Understanding Your Positive BRCA2 Genetic Test Result

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

5 Things To Know

1 BRCA2 mutation Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the BRCA2 gene.
2 Hereditary breast and ovarian cancer (HBOC) People with BRCA2 mutations have hereditary breast and ovarian cancer (HBOC).
3 Cancer risks You have an increased chance to develop female or male breast cancer, ovarian cancer, pancreatic cancer, prostate cancer, and possibly other types of cancer.
4 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.
5 Family Family members may also be at risk – they can be tested for the BRCA2 mutation that was identified in you.

BRCA2 Mutations in the Family

There is a 50/50 random chance to pass on a BRCA2 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 BRCA2 mutation No BRCA2 mutation

Understanding Your Positive BRCA2 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 BRCA2 gene. Both of these results should be considered positive.
Gene BRCA2 Everyone has two copies of the BRCA2 gene, which we randomly inherit from each of our parents. Mutations in one copy of the BRCA2 gene can increase the chance for you to develop certain types of cancer in your lifetime.
Condition hboc People with BRCA2 mutations have hereditary breast ovarian cancer (HBOC).
Cancer Risks Increased You have an increased chance to develop female or male breast cancer, ovarian, fallopian tube, or primary peritoneal cancer, pancreatic cancer, prostate cancer, and possibly other types of cancer.
Other Medical Concerns may be present Individuals with BRCA2 mutations may have an increased risk to have a child with Fanconi anemia, but only if their partner also carries a mutation in the BRCA2 gene. Fanconi anemia is a rare condition that can cause specific physical characteristics, bone marrow failure, and an increased risk of certain cancers.
Management Options for women Options for early detection and prevention for women may include: breast exam, mammogram, breast MRI, transvaginal ultrasound, a blood test called CA-125, preventive medications, and options for preventive surgery. Talk to your doctor about what options may be right for you.
Management Options for men Options for screening and early detection for men may include: breast exam, mammogram, and increased prostate screening. 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 BRCA2 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 BRCA2 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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