The BRCA test is a genetic test that can determine if you have a mutation in the BRCA1 or BRCA2 gene. BRCA1 and BRCA2 are two genes that produce proteins called tumor suppressors. Tumor suppressors help to prevent genetic changes that can lead to cancer.
For example, they can help to repair damage to DNA and also slow down cell division. Tumor suppressors can even let cells know when it’s time to die by a natural process called apoptosis, or programmed cell death.
But mutations to tumor suppressor genes, such as BRCA1 and BRCA2, can contribute to the development of cancer. Experts have linked genetic mutations in BRCA1 and BRCA2 to an increased risk for breast cancer and some other cancers, such as ovarian cancer.
Keep in mind that having genetic mutation in these genes doesn’t guarantee the development of breast cancer. It’s simply more likely.
You can inherit BRCA1 and BRCA2 mutations from either of your parents. If one of them has a mutation in one of the genes, there’s a
Read on to learn more about BRCA testing, including who should do it and what the results mean.
The BRCA test is only offered to people with an increased risk for breast cancer. This risk is determined by your personal and family medical histories.
As far as your personal medical history, your healthcare provider will factor in whether you’ve:
- had a breast cancer diagnosis prior to age 50
- had breast cancer affecting both breasts
- had ovarian cancer
- had both breast cancer and ovarian cancer
For your family medical history, they’ll consider whether you have:
- relatives with a breast cancer diagnosis prior to age 50
- a relative or relatives that have a confirmed BRCA1 or BRCA2 mutation
- relatives who’ve had breast cancer affecting both breasts
- male relatives who’ve had breast cancer
- relatives who’ve had breast or ovarian cancer or both
- Ashkenazi Jewish ancestry, as BRCA mutations are more common in this group
The BRCA test is fairly simple, but there are a few things you’ll need to do to prepare.
Before testing, your healthcare provider will likely recommend you speak to a genetic counselor. This is a medical professional who specializes in genetics and how conditions and traits are inherited.
Before the test, a genetic counselor can help you better understand what the test involves and what the results will and won’t tell you. They can also prepare you for how to deal with emotional consequences of finding out you have an increased risk for breast cancer.
Depending on your results, they can also guide you through the process of telling your relatives, especially your children if you have any.
A genetic counselor can also help you navigate your health insurance plan and ensure the test will be covered.
The procedure for BRCA testing involves collecting a sample of blood or saliva.
For a blood test, your healthcare provider will draw blood using a needle. This is similar to any other type of blood test. They’ll collect blood via a needle inserted into a vein in your arm. You may have some pain or bruising at the site where the needle was inserted, but both should go away in a few days.
If you’re doing a saliva test, you’ll be instructed to use a special mouth rinse. This mouth rinse works to collect cells from the inside of your mouth. If you’re going to be giving a saliva sample, be sure to follow your healthcare provider’s instructions about eating and drinking prior to your appointment.
Once they’ve collected your sample, your healthcare provider will send it off to a laboratory for testing. Technicians will isolate your DNA from the sample and analyze it for any signs of a mutation in the BRCA1 or BRCA2 genes.
Your results may not be available for several weeks. Your genetic counselor will contact you for an office visit once they receive them. The results aren’t a definite guarantee, so they’ll want to walk you through and make sure you fully understand them.
If your BRCA testing results come back positive, it means that you have a known mutation in your BRCA1 or BRCA2 genes. This means you have a higher risk for developing breast or ovarian cancer.
But remember, a positive result doesn’t mean you’ll get cancer. Many people with these mutations live full lives without developing any type of cancer.
If your results come back negative, it means that no BRCA1 or BRCA2 mutations were identified in your sample. But healthcare providers tend to only consider a result as truly negative when it confirms that you don’t have a BRCA mutation that’s been identified in a close relative.
If you don’t have any close relatives who’ve been tested, there’s no reference point for comparison. Your genetic counselor can give you a better idea of how accurate your negative result is.
Keep in mind that a negative result, with or without a result from a close relative, doesn’t mean you’ll never develop cancer. But it’s a strong indication that you don’t have any genetic mutations that might increase your risk.
It’s also important to remember that researchers are still working to identify additional mutations in the BRCA genes and other genes that can lead to an increased cancer risk. It’s possible to have a harmful mutation in a BRCA gene or another gene that just hasn’t been identified yet.
An uncertain result can occur when a mutation in BRCA1 or BRCA2 is detected, but the mutation isn’t known to lead to an increased risk of cancer.
Your genetic counselor will work to analyze the uncertain result and how it relates to your risk of developing cancer. After further analysis, uncertain results may be reclassified as a positive or negative result.
If your BRCA test comes back with a positive result, remember that it doesn’t guarantee that you’ll develop cancer. But it does give you the chance to proactively monitor yourself for any early signs and take steps to reduce your risk.
Still, getting a positive result can feel overwhelming and stressful, and you should take some time to process the results before taking any actions.
Let your close relatives know
Your results can have implications for your close relatives, particularly siblings and children. If you have a mutation, there’s a chance they may have it as well. A genetic counselor can help you come up with a good plan for how to inform them and manage their potential reactions.
This can be a difficult step, but it’s important to let close relatives know so they can determine whether they’d like to take the test as well.
Go in for regular checkups
People with a BRCA mutation should have a mammogram and an MRI scan once a year. In the event that you do develop breast cancer, these will both help to catch it early, when it’s usually easier to treat.
Your healthcare provider may also recommend regular clinical exams and blood tests for a protein called CA-125. This is commonly found in the blood of people with certain cancers, including ovarian cancer.
Consider preventive surgery
In some cases, the surgical removal of breast tissue can greatly reduce your risk of developing breast cancer. This procedure is called a mastectomy.
Additionally, preventive removal of the ovaries or fallopian tubes can reduce the risk of breast cancer and ovarian cancer in women who’ve not yet reached menopause. Here’s one woman’s take on having her breasts and ovaries preemptively removed after receiving her BRCA test results.
It’s important to remember that preventive surgery doesn’t completely eliminate your risk of developing cancer. This is because not all of the tissue that’s considered at risk can be removed by the surgery. Your healthcare provider can help you weigh the benefits and risks of having preventive surgery.
The U.S. Food and Drug Administration has approved two medications, tamoxifen and raloxifene, for people at high risk of developing breast cancer. These both belong to a class of medications known as selective estrogen receptor modulators (SERMSs).
Experts are still trying to figure out exactly how SERMs affect people with BRCA mutations, but they may be an effective alternative to preventive surgery for some.
If you have a high risk of ovarian cancer, your healthcare provider may also recommend birth control pills to reduce your risk. But taking these for more than five years may increase your risk of breast cancer, so your healthcare provider may decide the risk isn’t worth the benefit.
The BRCA test can be a useful tool to help you better understand your breast cancer risk if you have a personal or family history of certain cancers.
But the results aren’t always as straightforward as they seem, so it’s important to work closely with your healthcare provider and a genetic counselor.