What to Know About BRCA Testing and What Your Results Mean

BCRA gene testing can help you make informed decisions about your health. This can be particularly helpful for people with a family history of breast and ovarian cancer and BRCA gene mutations.

Everyone is born with the BRCA 1 and BRCA2 genes. You inherit two sets of each gene, one from each of your biological parents. These genes create proteins that help repair damaged DNA. But, having a gene mutation in your BRCA genes can increase your risk of developing breast and ovarian cancer. Scientists developed a genetic test known as BRCA testing, which lets you know if you have a gene mutation in your BRCA gene.

Learn more about BCRA testing, who should get tested, benefits, risks, and how it works.

What Is BRCA Testing?

The purpose of BRCA testing is to take a closer look at the BRCA1 and BRCA2 genes. These genes normally work to help repair damaged DNA. However, if these genes aren't functioning normally, you may have a gene mutation in your BRCA genes, which can increase your risk of developing certain cancers. BRCA is an abbreviation for "BReast CAncer gene"—but note that having a BRCA gene mutation can increase your risk of several types of cancer outside of breast cancer.

Getting BRCA tested can give you a better picture of the status of your BRCA genes and whether you have an increased risk of developing cancer. People with a gene mutation may be most at risk of developing breast and ovarian cancer, especially if assigned female at birth. However, a gene mutation can also increase your risk of developing certain other cancers, including cancers of the pancreas, skin, fallopian tubes, and the prostate in people assigned male at birth.

BRCA testing is accurate and can tell you if you have a gene mutation. Having a mutation doesn't guarantee that you'll develop cancer, though, and many people who develop breast and ovarian cancer don't have a BRCA mutation.

Who Should Get Tested?

BRCA testing doesn’t make sense for everyone. The test can be expensive and having a mutation can be relatively rare, so not everyone needs to get tested.

However, you should consider BRCA testing if you have a family history of breast or ovarian cancer or if you know you're at risk of having a gene mutation. A genetic counselor or other trained healthcare provider can help you assess your risk and get you started with the BRCA testing process. Some factors that may increase your risk of having a BRCA mutation include:

• Having a male relative who was diagnosed with breast cancer
• Having multiple family members with breast or ovarian cancer or a family history of having breast cancer in both breasts
• Receiving a diagnosis of breast cancer at a young age (before the age of 40)
  

You should also strongly consider BRCA testing if someone in your family has already tested positive for a BRCA mutation. For example, if your sister or mother has a BRCA mutation, you have a 50% chance of having that same mutation.

Benefits of BRCA Testing

For people at risk of a gene mutation, BRCA testing has some benefits. If you learn that you don’t have a BRCA mutation, this may increase your peace of mind, both for yourself and for other members of your family. Note that testing negative doesn’t necessarily mean that you won’t get cancer, as it is still possible to develop breast cancer without a gene mutation.

Testing positive for a BRCA mutation can feel difficult and scary. However, knowing about the mutation can have benefits, such as taking early steps to protect your health and prevent your risk of developing cancer. Other benefits may include:

• Increased monitoring: You might get more frequent mammograms, begin mammogram testing at an earlier age, and/or opt for additional monitoring tests such as magnetic resonance imaging (MRI), which gives a more detailed view of the breasts compared to a mammogram. Early prevention and screening can help you catch cancer early and start treatment sooner.
• Preventative removal of reproductive organs: Some people who test positive for the BRCA gene may opt to remove both of their breasts, ovaries, or fallopian tubes. If these surgeries make sense for you, they can significantly reduce or completely remove your risk of developing BRCA-related cancers.

Risks of Testing

There are little to no risks that are associated with BRCA testing. When you go in for the exam, your healthcare provider may ask for a saliva sample, cheek swab, or blood sample. Giving a saliva sample or cheek swab poses no risks. However, giving a blood sample may cause pain or discomfort where the needle is inserted.

If you test positive for a BRCA mutation, you may have to make challenging decisions about your health, such as:

• Getting surgery to remove your breasts or genital organs: Surgery may increase your risk of serious complications such as a blood clot in your lung or wound infection
• Taking medications to prevent breast cancer: As with all medications, drugs that can lower your breast cancer risk come with their own set of side effects, such as symptoms of menopause and a higher risk of having blood clots or a stroke

Additionally, learning about your BRCA gene status may be difficult and lead you to experience symptoms such as anxiety or distress.

How BRCA Testing Works

If you decide to get tested, BRCA tests are commercially available in laboratory and home settings. BRCA testing varies from test to test, but may include:

• Taking a blood sample: Some healthcare providers use a needle to collect a small amount of blood from a vein in your arm to send in for testing in a laboratory.
• Taking a saliva sample: Other healthcare providers opt to use a sample of your saliva, which you give by spitting into a container. Generally, you may need to avoid eating or drinking anything for a short time before the test.
• Swabbing your cheeks: Some at-home tests may require you to swab your cheeks with a cotton round or Q-tip to provide a sample of your DNA. It's important to follow the instructions on the box of your at-home test, which may include rinsing out your mouth before completing a cheek swab.

BRCA tests may differ in how your sample is analyzed. For instance, if you already know that someone in your family is positive for a specific version of a BRCA gene, you’ll likely get a test that checks for the specific BRCA variant that runs in your family.

Other types of BRCA tests check for multiple versions of the BRCA1 and BRCA2 genes and may help identify the kind of genetic mutation you have. You might be more likely to get a test like this if there aren’t already clues about the kind of BRCA variant you might have. In most cases, you can get your results within one to two weeks from the lab.

Getting Tested

There are two primary ways of getting a BRCA test: at a hospital or clinic with your healthcare provider or by testing yourself at home. Here's what to know about both types of testing.

Testing at a Clinic

The most reliable genetic testing is done through your healthcare provider at their office or in a hospital. Your provider can also refer you to a genetic counselor who works with a lab that helps conduct your test. A genetic counselor or other specialist can help you understand and interpret your results.

Testing at Home

If you do not want to go in for testing or don't have access to adequate healthcare services, you can take an at-home test. The American College of Gynecologists and Obstetricians does not recommend this type of testing because at-home tests don't always test for all types of BRCA mutations. Additionally, you may get a false positive result—meaning the test tells you that you have a mutation when you don't.

Understanding Your Results

It's normal to wait up to two weeks before you get your results if testing at a clinic or hospital. When your results come in, your healthcare provider may call you with your test results or ask you to schedule an appointment to discuss results.

You'll either receive a positive test result or a negative test result. In some cases, however, your results may be inconclusive or unclear and you may need additional testing or to take the test again. Understanding BRCA test results can sometimes be confusing, as the results aren't always clear. If you have questions about what your results mean, it's important to speak with your healthcare provider or genetic counselor.

Positive Results

If you receive a positive BRCA result, it means that you have a specific BRCA mutation that increases your risk of developing certain cancers (such as breast or ovarian cancer). You may also have a higher chance of getting these conditions at a younger age. However, a positive BRCA does not mean that you definitely will get cancer—as no test currently can tell you that information.

Getting a positive result may also mean a higher likelihood of passing on a gene mutation yourself. Children of a person with a BRCA mutation have a 50% risk of inheriting the same mutated gene.

Additionally, if you are positive for a BRCA mutation, you may choose to share this information with family members so they can make a more informed decision about BRCA testing for themselves.

Negative Results

A negative result can have multiple meanings. One is that you are probably not at a higher risk for breast or ovarian cancer than the average person, and you won’t pass down a gene mutation to any children.

However, a negative result might mean that you didn’t inherit a mutated BRCA1 or BRCA2 gene but you still may be at risk of cancer due to other biological or environmental factors. In these cases, getting tested for other types of cancer genes may be recommended.

Uncertain or Inconclusive Results

The most confusing result is when your genetic test comes back inconclusive. This test result essentially means that your DNA sample did not show significant positive or negative evidence of having (or not having) a BRCA gene mutation. In such cases, the test isn't able to rule out the possibility of having a BRCA mutation, but it can't confirm the presence of a mutation either.

Inconclusive results can be frustrating. A genetic counselor may recommend additional testing, such as taking a different type of BRCA test or testing for other cancer-related gene mutations.

When to Contact a Healthcare Provider

Contact a healthcare provider to discuss if BRCA testing is recommended for you. This is particularly important if you have a family history of ovarian or breast cancer or you have any other questions or concerns about your cancer risk or the BRCA testing process.

A Quick Review

BRCA testing can inform you of a genetic mutation that can significantly increase your risk of breast or ovarian cancer. While this test can't tell you for sure if you will one day develop breast or ovarian cancer, it can provide information about whether or not you carry a gene that boosts your chances of developing cancer in the future. If you have a family history of breast or ovarian cancer, talk to your provider about BRCA testing to see if it's right for you.