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BRCA1, BRCA2 and Cancer Risk: Should You Have Genetic Testing?
Women's Health

BRCA1, BRCA2 and Cancer Risk: Should You Have Genetic Testing?

By Your Health Staff
Posted: October 23, 2024

Everyone has BRCA1 and BRCA2 genes, which produce proteins that restore damaged DNA. You inherit one copy of both genes from each parent when you are born. If you inherit a harmful change — known as a mutation — in one of these genes, you are at higher risk for developing breast and ovarian cancer. There are also many genes other than BRCA1 and BRCA2 that can increase your risk of breast and other cancers. It is important to know your family history to see if you need to talk to your doctor about your risk of cancer in the future.

“For some people, genetic testing to find out if you have an inherited gene mutation may be a good option,” says Melanie Crutchfield Whitten, MD, breast surgical oncologist at Methodist Cancer Institute. “Genetic counseling and genetic testing can offer guidance that helps you better determine how you can best manage your cancer risk. But getting tested is a personal decision and may not be right for everyone.”

Who Should Consider Genetic Testing for Cancer Risk Assessment?

Experts recommend that genetic testing focus on people more likely to have an inherited genetic mutation. You might fall into this category if you have:

  • A family member who has an inherited genetic mutation

  • A personal or family history of breast cancer that occurred at age 50 or earlier

  • A personal or family history of certain other cancer types, including ovarian cancer, pancreatic cancer, male breast cancer or high-risk prostate cancer

  • Ashkenazi Jewish heritage

“If you think you are at risk for having cancer in the future due to your family history, the first step is to talk to your primary care provider, who can refer you to a genetic counselor,” Dr. Crutchfield Whitten says. “Your genetic counselor will do a risk assessment to determine your personal risk factors, help you decide if testing is right for you and guide you through the testing process. Many breast surgeons also conduct genetic counseling as well.”

 

Pros and Cons of Genetic Testing

Your genetic counselor can help you understand the benefits and possible downsides of having genetic testing.

Some of the benefits include:

  • Having the opportunity to better manage your cancer risk if testing is positive for harmful genetic changes

  • Helping your family members learn more about their own cancer risks

Some of the possible risks of testing include:

  • Experiencing stress if you find out you have inherited harmful gene changes

  • Getting a rare false-positive result or unclear result

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Understanding the Test and Your Results

If you decide to have genetic testing, your genetic counselor can guide you to the right tests, as many tests are available that look for different types of gene mutations. For example, if you have a family member with a BRCA mutation, you might be tested only for that specific gene change. In other cases, you might have more extensive testing to look for many different mutations, both in BRCA genes and some other genes.

To do the testing, you will give a blood or saliva sample or have your cheek swabbed, and the samples will be sent to a lab for testing. There are several possibilities for the results, including:

  • Inconclusive. Sometimes, the test is unable to determine if you have a gene mutation.

  • Negative. None of the harmful gene changes being tested for were found. This is especially helpful if you have family members with a specific mutation because it means you did not inherit it.

  • Positive. The test found you have a genetic mutation that is linked to a higher risk of cancer. This is sometimes called hereditary breast and ovarian cancer syndrome.

  • Positive for a variant of unknown significance (VUS). This means the test revealed a gene change, but whether this change affects your cancer risk is unknown.

If you test positive, the test cannot tell you definitively if you will develop cancer. Some people who inherit gene mutations never develop cancer. But the result can guide you in making decisions to help prevent cancer, such as:

  • Following a healthier lifestyle, such as quitting smoking, exercising more and eating a healthier diet

  • Getting screened for cancer at a younger age or more frequently

  • Taking steps to reduce your risk, such as having surgery to lower your risk of breast cancer

If you test negative, it’s important to remember this doesn’t mean you have no risk of cancer. Instead, it means that your risk is likely similar — and not higher — to that of the general population. However, you should still work with your genetic counselor and doctor to manage your personal cancer risk factors.

Are you concerned about your cancer risk? Find a primary care provider at Methodist Le Bonheur Healthcare who can help.