Understanding the Ashkenazi Jewish BRCA Founder Mutations

This video explains BRCA genes and Ashkenazi Jewish founder mutations and the cancer risks associated with them. It also explains the types of results you may get from genetic testing and how these results may affect you and your family.

When we say family, we mean family members related to you by blood.

We're all born with BRCA1 and BRCA2 genes. These genes help prevent us from getting cancer. But when you have a mutation in one of these genes, they won't work the way they should, increasing your risk for certain cancers.

A founder mutation is a mutation that's more common in people who belong to a certain community. For example, people of Ashkenazi, or Eastern European Jewish, ancestry are much more likely to have a BRCA mutation. These mutations are called the Ashkenazi Jewish BRCA founder mutations.

It's important for people with Ashkenazi Jewish ancestry to consider having genetic testing to find out if they have any of these mutations. Knowing if you have a BRCA mutation can help you understand and better manage your risks of certain cancers.

Females with a BRCA mutation have a higher risk for breast and ovarian cancer. Males with a BRCA mutation have a higher risk for prostate cancer.

BRCA mutations also increase the risk for pancreatic cancer and male breast cancer. But these are rare cancers that most people with this mutation won't develop.

BRCA mutations may also lead to a slightly increased risk for melanoma.

If you're of Ashkenazi Jewish ancestry, you can find out if you have a BRCA founder mutation through a genetic test called the BRCA Ashkenazi Jewish founder mutation analysis. This test will look at the DNA in your blood or saliva to check for three specific BRCA founder mutations.

If you choose to have this test done, there are two types of results you can get.

A negative result means we didn't find a BRCA founder mutation in your DNA. This may also be called a normal result. This can be reassuring, but it's important to review your personal and family history with your genetic counselor.

Even if you get a negative result, your genetic counselor may recommend you have testing to check for other BRCA mutations or mutations in other genes based on your family history.

A positive result means we found a BRCA founder mutation in your DNA. This means you have an increased risk for cancers linked to this mutation, but there are many things you can do to help prevent them or find them early, when they're often easier to treat.

Your genetic counselor and healthcare providers will review your results with you and talk with you about what cancer screenings they recommend.

Remember, this test only checks for the BRCA mutation in people who have Ashkenazi Jewish ancestry. If you're not of this ancestry, we can recommend a different test for you.

If you have a BRCA mutation, we'll give you cancer screening recommendations. We may recommend you start cancer screenings at a younger age, have them more often than most people, or have specialized screenings to help find cancer as early as possible.

We may also recommend you consider having surgery to try to keep cancer from developing.

For example, we’ll recommend that females with a BRCA mutation have breast screenings starting at an earlier age, or consider having surgery to have their breasts removed to prevent breast cancer.

We'll also recommend that females who have a BRCA mutation have surgery to remove their ovaries to prevent ovarian cancer. This is done after family planning.

For males with a BRCA mutation, we'll recommend you have prostate exams starting at an earlier age and prostate-specific antigen blood tests to check for prostate cancer.

If you choose to have genetic testing, your genetic counselor will review your results and options with you. They'll personalize their recommendations for you based on individual factors, including your sex assigned at birth.

If you have a BRCA mutation, your biological parents, siblings, and children all have a 50% chance of having the same mutation.

Your blood relatives may want to have their own genetic testing done to find out if they have the same mutation. This information can let them know their own cancer risk and what they can do to manage their care.

If you have a BRCA mutation and plan to have children, there are options to prevent your children from inheriting the mutation. You may especially want to consider this if both you and your partner have a BRCA mutation, because there's a chance your child could be born with a rare condition called Fanconi anemia. This condition can cause many medical issues, including bone marrow failure.

Your genetic counselor can talk with you about these options.

Genetic testing can help you find out your risk for certain cancers, whether you've been diagnosed with cancer or not. It can also help you and your healthcare providers make decisions about your care, like which cancers you should screen for.

Even if you have cancer, genetic testing may be helpful for making treatment decisions or preventing future cancers. It can also help your blood relatives learn about their own cancer risk.

There are also limitations to genetic testing for the Ashkenazi Jewish BRCA founder mutations. This testing only looks for the most common BRCA mutations. It doesn't look for less common BRCA mutations or mutations in other genes. This testing only checks for BRCA mutations in people who have Ashkenazi Jewish ancestry.

Some people may worry about how genetic test results can be protected and whether they'll be treated differently or lose their health insurance based on the results of their genetic test.

Currently, there is a law in place called the Genetic Information Nondiscrimination Act, or GINA. This law protects against discrimination from health insurance or employers.

Legally, genetic test results cannot be used to deny a person health benefits or a job. But this law doesn't apply to long-term disability and life insurance and has some exceptions.

This means it's possible that disability or life insurance companies can use genetic test results to deny you coverage or raise your premiums.

Health insurance coverage for cancer genetic testing depends on your insurance company and plan and your personal and family history of cancer.

Some insurance companies have guidelines with specific genetic testing criteria. These guidelines can usually be found on your insurance company's website. Contact your insurance company for information about your coverage.

When deciding whether to have genetic testing, some people may consider how they'd use their test results. For example, would they change how often they screen for cancer or consider surgery to prevent cancer? Are they willing to speak with their blood relatives about genetic testing and share their test results?

Remember that genetic test results may affect your siblings, parents, children, and other relatives.

We encourage you to think about the information in this video when deciding if you'd like to move forward with genetic testing for the BRCA Ashkenazi Jewish founder mutations.

If you decide to get genetic testing, you'll first sign a consent form that reviews the risks and benefits of testing. Then, you'll make an appointment to have your blood drawn or have a saliva collection kit mailed to your home.

When the lab gets your blood or saliva sample, we'll ask you to schedule your genetic counseling consultation. During your consultation, we'll talk with you about your results and our cancer screening or prevention recommendations for you.

We'll also talk about what your results mean for your family.

It usually takes a few weeks to get your results back.

We hope you found this information helpful. If you have any questions, call our office at 646-888-4050.