Quick Answer: BRCA testing may be recommended for people whose personal or family history suggests an increased risk of inherited breast, ovarian or certain other cancers. The test looks for inherited changes, called variants, in the BRCA1 and BRCA2 genes that can increase cancer risk. Testing may also involve a multigene panel, which checks for variants in BRCA1 and BRCA2 as well as other genes associated with breast cancer risk, including PALB2, ATM, TP53, CDH1, PTEN, STK11 and CHEK2. The level of risk varies by gene and specific variant. A doctor or genetic counselor can help determine which type of testing may be appropriate for you.
You may have heard the term BRCA in the news, on social media or while learning about breast cancer and wondered whether you should be tested.
The name BRCA comes from the words “BReast CAncer.” Everyone has two genes, BRCA1 and BRCA2, which help repair damaged DNA and protect cells from developing cancer. However, certain harmful inherited changes, or variants, can prevent these genes from working properly. BRCA testing looks for pathogenic variants that can increase the risk of breast cancer and several other cancers.
This article explains what BRCA testing looks for, who may benefit, what your results may mean and what to discuss with your doctor or genetic counselor.
BRCA Testing for Breast Cancer Risk Explained
BRCA testing is a type of genetic testing that looks for inherited variants in the BRCA1 and BRCA2 genes that may increase your risk of certain cancers. Testing usually requires a blood or saliva sample.
The test can:
- Identify inherited genetic changes that may increase cancer risk
- Help estimate your risk of certain cancers
- Provide information that may guide cancer screening and other health decisions
BRCA testing does not diagnose cancer and cannot predict with certainty whether you will develop cancer. Having a harmful BRCA variant means your risk may be higher than average, but it does not mean you will develop cancer.
How Is BRCA Testing Different From Tumor Testing?
Inherited genetic testing and tumor testing serve different purposes. A blood or saliva test looks for genetic changes you were born with that can be passed from parent to child. Tumor testing looks for genetic changes in cancer cells and may help doctors select treatments when someone has cancer.
Who Should Get BRCA Testing?
BRCA testing may be recommended for people with certain personal or family cancer histories, including:
- Breast cancer diagnosed at a younger age
- Triple-negative breast cancer
- Ovarian, fallopian tube or primary peritoneal cancer
- Male breast cancer
- Pancreatic cancer
- Metastatic or high-risk prostate cancer
- Several close relatives with breast, ovarian, pancreatic or certain prostate cancers
- A known harmful BRCA1 or BRCA2 variant in the family
- Certain ancestry associated with a higher prevalence of BRCA variants
The overall pattern matters. The type of cancer, age at diagnosis and family history can all help determine whether genetic testing is appropriate. You can obtain this gene from both your mother or your father, so it is important to look at the history on both sides of your family.
What Cancers Are Linked to BRCA Variants?
Harmful variants in BRCA1 and BRCA2 genes can increase the risk of several cancers. They are most strongly associated with breast and ovarian cancer and can also increase the risk of:
- Male breast cancer
- Pancreatic cancer
- Prostate cancer
- Melanoma
The level of risk varies based on whether the variant is in BRCA1 or BRCA2, the specific variant and other individual factors.
What Do BRCA Test Results Mean?
BRCA testing can produce several types of results. The meaning of a result depends on the specific variant found and your personal and family history.
Positive Result
A positive result means testing found a harmful or potentially harmful BRCA1 or BRCA2 variant. It does not mean you have cancer. It means your risk of developing certain cancers may be higher than average.
Depending on your individual risk, your care team may discuss additional screening, risk-reduction options or genetic testing for certain family members.
Negative Result
A negative result means testing did not find a harmful BRCA variant.
The meaning of a negative result depends on your circumstances:
- If your family has a known harmful BRCA variant: A negative result can be reassuring because you did not inherit that specific variant.
- If your family has no known BRCA variant: Your overall cancer risk may still be influenced by your family history, other genes and other risk factors.
Variant of Uncertain Significance
Sometimes genetic testing finds a variant, but experts do not yet have enough information to determine whether it increases cancer risk. This is called a variant of uncertain significance (VUS).
A VUS does not provide evidence that you have a harmful BRCA variant. The decision to undergo closer follow-up or to act on this finding will be a discussion with your medical provider and based on your personal risk factors and family history.
What Happens After BRCA Testing?
Your results can help you and your care team decide what steps to take next.
- If a harmful BRCA variant is found, you may discuss earlier or more frequent cancer screening, risk-reducing options and other ways to manage your cancer risk. Genetic counseling can also help you understand what the result may mean for your family.
Because BRCA variants can be passed from parent to child, close relatives may benefit from genetic counseling or testing to learn whether they inherited the same variant.
- If no harmful BRCA variant is found, your screening plan will depend on your overall risk. Your family history, personal history and other risk factors may still influence the type and timing of cancer screening you need.
What Should You Ask a Genetic Counselor?
A genetic counselor is a health professional trained to help people understand inherited conditions, cancer risk and genetic testing. Genetic counseling can help you weigh the potential benefits, limitations and implications of testing before you decide whether to proceed.
Consider asking:
- What does my personal and family history suggest about my cancer risk?
- Would BRCA testing for breast cancer risk provide useful information for me?
- How could my results affect my screening or other health decisions?
- What could my results mean for my family?
Frequently Asked Questions About BRCA Testing
Can I Get BRCA Testing Without a Family History of Breast Cancer?
Yes. A family history of breast cancer is not required. Personal cancer history, other cancers in the family, a known BRCA variant or certain ancestry (such as Ashkenazi Jewish heritage) may also lead to a recommendation for testing.
Can Men Get BRCA Testing?
Yes. Men can carry BRCA1 and BRCA2 variants and pass them to their children. These variants can also increase the risk of certain cancers in men, including male breast, prostate and pancreatic cancers.
How Long Does BRCA Testing Take?
The timing varies by laboratory and type of genetic testing. Results often take a few weeks.
Is BRCA Testing Painful?
BRCA testing is usually simple and minimally uncomfortable. Depending on the test, a small blood or saliva sample is collected.
What to Do Next
If you’re considering breast cancer panel genetic testing including BRCA testing, gather what you know about your family’s cancer history, including who was diagnosed, what type of cancer they had and their age at diagnosis. This information can help provide a clearer picture of your inherited cancer risk.
The goal of genetic testing is not simply to find a gene variant. It’s to give you information that can help guide screening, prevention and future health decisions for you and your family.
At the Stony Brook Cancer Center’s Carol M. Baldwin Breast Care Center, our specialists are dedicated to providing comprehensive care tailored to each patient’s specific type and stage of breast cancer. This includes in-depth diagnostics and a multidisciplinary approach to treatment, ensuring that each patient receives the most effective strategies for their particular cancer subtype.
