Learn What BRCA Testing Is and Who Should Get BRCA Testing

If you’ve heard people talking about “breast cancer genes,” they probably were referring to BRCA — but they were only partly right. Everyone has BRCA (BReast CAncer) genes. And they protect you when they work correctly.

“We all have two copies of the BRCA1 and 2 genes, and we want them to be functioning properly,” said Chrissy Spears, M.S., a licensed genetic counselor at the Ohio State University Comprehensive Cancer Center and a member of HealthyWomen’s Women’s Health Advisory Council. It’s not the genes themselves, but certain mutations (changes) in BRCA1, BRCA2 and other genes that can increase a person’s risk of developing breast cancer and other cancers.

Normal BRCA1 and BRCA2 genes produce proteins that help fix damaged DNA. They’re sometimes called “tumor suppressor genes” because they keep cancer from occurring when they’re working the way they’re supposed to. When BRCA1 or BRCA2 mutations keep the BRCA protein from repairing the DNA, cells are more likely to divide and grow rapidly, which can lead to cancer.

This is why people with harmful BRCA1 or BRCA2 mutations are at greater risk of developing certain types of cancers, including breast, ovarian and prostate cancers.

Read: How Do Genes Affect Your Health? >>

According to the National Cancer Institute:

  • Up to 72% of women with a harmful BRCA1 variant and up to 69% of women with a harmful BRCA2 variant will develop breast cancer by 70–80 years of age, compared to 13% of women in general.
  • Up to 44% of women with a harmful BRCA1 variant and up to 17% of women with a harmful BRCA2 variant will develop ovarian cancer by 70–80 years of age, compared to just 1.2% of women in general.

The good news? There are tests that can tell you if you have a BRCA mutation. Understanding BRCA testing can help you decide with your healthcare provider (HCP) if you should get tested. Getting a timely BRCA test at or immediately following a cancer diagnosis could be a life-changing decision.

What is BRCA testing?

BRCA genetic testing looks for mutations in your BRCA1 or BRCA2 genes that significantly increase a person’s risk of:

  • Breast cancer (in women and men)
  • Ovarian cancer
  • Pancreatic cancer
  • Melanoma
  • Prostate cancer

Genetic testing can also look for mutations in genes other than BRCA1 and BRCA2. And there are more than 1,000 known BRCA mutations out there. Testing can be done as a blood or saliva test with no difference in accuracy. Talk to your doctor or a genetic counselor to have them order an FDA-approved test. Once a sample has been collected, you can expect to have results in about two weeks.

Who should get BRCA testing?

BRCA testing is recommended for people with certain risk factors. These include:

  • A personal history of breast cancer (especially if you were diagnosed before age 50)
  • A personal history of both breast and ovarian cancer
  • A personal or family history of multiple cancer diagnoses
  • A personal or family history of ovarian, pancreatic or high-risk prostate cancer
  • At least one family member who has been diagnosed with breast cancer, especially if they were diagnosed before age 50
  • Breast cancer in a male relative
  • One or more family members who have already been diagnosed with a BRCA mutation
  • Ashkenazi Jewish ancestry, since 1 in 40 Ashkenazi Jewish women has a BRCA mutation
  • Certain other ancestries

If you have one or more of these risk factors, consider talking to your HCP about BRCA testing. They may refer you to a genetic counselor, a person who is specifically trained to help people decide if genetic testing is right for them.

Some BRCA mutations are hereditary. This means they can be passed from a parent to a child. People are at a higher risk of certain types of cancer if they inherited a BRCA mutation. If you have a family history of certain cancers, such as breast, ovarian and prostate cancers, genetic testing can help you understand your risk of developing certain cancers, and help you and your HCP make informed healthcare decisions.

“We come from a ‘knowledge is power’ perspective,” Spears said. “If we know that there’s a mutation, there are things that we can do about it.”

Read: How Do Genes Affect Your Health? >>

Spears suggests that women also talk to the men in their lives about BRCA testing because they can have BRCA mutations as well.

Should you have BRCA testing after a breast cancer diagnosis?

While the decision to get BRCA testing after a breast cancer diagnosis should be made on an individual basis by a woman and her care team, genetic testing can be helpful for women with breast cancer who:

  • Were diagnosed with breast cancer at a younger age
  • Have triple-negative breast cancer
  • Have been diagnosed with a second breast cancer (not a recurrence of the first cancer)
  • Are of Ashkenazi Jewish descent
  • Have a family history of breast cancer (especially at a younger age or in men), ovarian cancer, pancreatic cancer or prostate cancer

Recently, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) released updated recommendations for genetic mutation testing in patients with breast cancer. Among other criteria, the guidelines recommend BRCA1 and BRCA2 mutation testing for all newly diagnosed patients with breast cancer who are 65 or younger and certain patients who are older than 65.

Does BRCA status affect treatment decisions?

Since BRCA mutations can affect the way breast cancer is treated, discovering these mutations as soon as possible may help you make treatment decisions. Genetic testing may give your HCP insight into which targeted therapies your cancer may respond to. (Targeted drug therapy is a cancer treatment with drugs made to “target” cancer cells without affecting normal, healthy cells.)

Genetic testing results may also encourage you to take other preventive measures, such as getting screened more often if you find you are at higher risk for certain cancers.

Is BRCA testing covered by insurance?

Many health insurance plans will cover the cost of genetic testing when it’s recommended by a physician, according to the American Society of Clinical Oncology. But coverage is ultimately up to your insurance company, so it’s a good idea to verify whether BRCA testing is covered before you move forward.

Some organizations offer information and resources for those who can’t afford preventive care. For example, FORCE, Facing Hereditary Cancer Empowered, is an advocacy organization that provides information about genetic testing and directs people to additional resources about insurance coverage for genetic testing.

Are at-home genetic testing kits effective?

Although at-home genetic testing kits exist, talk with your HCP about BRCA testing. At-home tests are not comprehensive (meaning they don’t test for all BRCA mutations), and their results may be confusing without an expert to walk you through them — and help you figure out what to do next.

Visit beBRCAware.com to learn how genetic testing can provide important information about cancer risk and help you make treatment decisions after a diagnosis.

This educational resource was created with support from AstraZeneca and beBRCAware.com.



Susan G. Komen Family Health History Tool

UCSF Center for BRCA Research Studies

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