What To Know About the BRCA Gene Before Getting Genetically Tested
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Medically reviewed by Doru Paul, MD
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 overian cancer. Scientists developed a genetic test known as BRCA testing, which lets you know if you have a gene mutation in your BRCA gene and how to make informed decisions about your health.
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. It's worth noting that BRCA is an abbreviation for "BReast CAncer gene"—but, 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. If you do have a gene mutation, you may be most at risk of developing breast and ovarian cancer in assigned females 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 assigned males at birth.
It's important to note that BRCA testing is accurate and can tell you if you have a gene mutation. But, having a mutation doesn't guarantee that you'll develop cancer—and some people who develop breast and ovarian cancer don't always have a BRCA mutation.
Should You 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 multiple family members with breast or ovarian cancer or a family history of having breast cancer in both breasts
Receiving a diagnosis for breast cancer at a young age (before the age of 40)
Knowing a male relative who was diagnosed with breast cancer
You should also strongly consider BRCA testing if someone else 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
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 the family. Testing negative doesn’t necessarily mean that you won’t get cancer–as many people without a gene mutation can also develop cancer. But, having a negative test result may lower your need to be quite as vigilant about monitoring and prevention.
Testing positive for a BRCA mutation can feel difficult and scary. However, knowing about your mutation can also have its own set of benefits, such as taking early steps to protect your health and prevent your risk of developing cancer. Other benefits of knowing about your mutation may include:
Increased monitoring: You might have more frequent mammograms, mammograms starting at an earlier age, and/or 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.
Organ removal: 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.
Additionally, if you are positive for a BRCA mutation, an important benefit is being able to share this information with your family members. This may prompt them to also get tested for the BRCA mutation. If they learn they are also positive, knowing their test results can also help a relative prevent a BRCA-related cancer or detect the condition early when it is easier to treat.
Risks
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 a bit of pain at the site where your provider draws your blood.
If you learn that you test positive for a BRCA mutation, you may have to make some choices about your health that can pose some risks. These risks include:
Getting surgery to remove your breasts or genital organs: Increases 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
Experiencing mental health symptoms: Learning about your BRCA gene status can feel difficult, and as a result, you might experience symptoms such as anxiety or distress
How The Test Works
If you decide to get tested, there are many different BRCA tests that are commercially available in laboratory and home settings to help you understand the status of your BRCA genes. How BRCA testing works can vary based on the setting you are in and how a provider is conducting your test, but may include:
Using 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 to a laboratory.
Taking a saliva sample: Other healthcare providers opt to use a sample of your saliva, which you can 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 for the test. 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 can also sometimes differ in how technicians analyze your sample. 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 just 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 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. Having a genetic counselor or other specialist as a part of your care team can be important as they 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, a backup option for BRCA testing is to take an at-home test. It's important to note that the American College of Gynecologists and Obstetricians discourages 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
Once you are done with your genetic test, it's normal to wait up to two weeks before you get your results. When your results do come in, your healthcare provider will usually call you about your test results or ask you to schedule a secondary appointment.
In most cases, you'll either receive a positive test result or a negative test result. But in some cases, your results may be inconclusive or unclear—meaning that 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 Result
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 when you are 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 also means that you have a mutation that you might have already passed down to your children or can pass to your children if you have kids later on in life. Any child of someone with a BRCA mutation has a 50% risk of inheriting the same mutated gene.
Although you aren’t obligated to tell anyone that you are BRCA positive, you should consider telling other members of your family about your status. Sharing this information can help a relative who hasn't undergone BRCA testing to get tested for the gene mutation and screened for cancers early.
Negative Result
Getting a negative result can sometimes be a little harder to interpret. What your result means also requires a bit more context. For instance, suppose someone in your family was positive for a BRCA1 or BRCA2 mutation, and you received BRCA testing for that particular mutation. A negative result means 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 your children.
However, suppose no one else in your family was known to have a BRCA1 or BRCA2 mutation, but you have a strong family history of cancer. In this case, a negative result might mean that you didn’t inherit a mutated BRCA1 or BRCA2 gene, but still may be at risk for developing some type of cancer due to other biological or environmental factors. In these cases, getting tested for other types of cancer genes can sometimes be helpful.
Uncertain or Inconclusive Result
The most confusing result (for both you and your healthcare provider) 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.
Getting this test result can be extremely frustrating. Fortunately, a genetic counselor is specifically trained to support your feelings as you move through the testing process and recommend additional testing, such as taking a different type of BRCA test or testing for other cancer-related gene mutations.
A Quick Review
BRCA testing is one way to see if you have a gene mutation that can significantly increase your risk of breast or ovarian cancer. It's worth noting that this test can't tell you for sure if you will one day develop breast or ovarian cancer, but it can provide information about whether or not you carry a gene that boosts your chances of testing positive for 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.
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