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BRCA gene test: What it is and why you might want one

If you’re concerned about breast cancer or ovarian cancer, you may want to consider getting tested.

Has breast cancer affected any of the women in your life? It’s not just your family; breast cancer affects roughly 1 in 8 women.

You can’t change some of your risk factors, like age or family history. But you may be able to help lower your risk by staying active, keeping a healthy weight and only drinking alcohol in moderation.

Other great ways to manage your risk include getting regular mammograms. And for some women, getting a breast cancer gene test, or BRCA gene test, could be a good idea.

Below, find out more about what goes into a BRCA test.

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What are BRCA genes?

Before we get to the test itself, it’s worth understanding what BRCA genes are in the first place. The 2 BRCA genes, BRCA1 and BRCA2, can be found in both women and men. They are genes that produce proteins that help repair damaged DNA.

So, when the BRCA genes aren’t working properly, the damage doesn’t get repaired, and that’s when cancer may occur. There’s a link between BRCA mutations and several types of cancer, including breast cancer, ovarian cancer, pancreatic cancer and prostate cancer (in men).

What is the BRCA gene test, exactly?

A BRCA gene test uses a small sample of cells from your body to determine whether you have a mutation in your BRCA1 or BRCA2 genes. (A mutation is a change in the DNA structure.)

“There are other genes we test for as well, but the BRCA gene is the most likely gene to be mutated in breast cancer,” says Krystina Tongson, D.O. She’s a breast surgical oncologist at HCA Florida Aventura Hospital in Aventura, Florida.

For those with a BRCA mutation, the risk is higher than normal.

Fortunately, these gene mutations are relatively rare. They affect only about 1 in 500 women in the United States, according to the Centers for Disease Control and Prevention (CDC). And if you know you have a mutation, you can screen more frequently or take other steps to reduce your risk.

Who should consider BRCA testing?

There are a few reasons why you may want to get tested, according to Dr. Tongson. They include:

  • A family history of breast cancer in someone under age 50 (on either parent’s side)
  • A male relative with breast cancer
  • A family history of ovarian, pancreatic or metastatic prostate cancer
  • Ashkenazi (Eastern European) Jewish heritage

Your doctor may also recommend testing if you’re diagnosed with breast cancer or ovarian cancer under the age of 50. “If you’re diagnosed with an aggressive breast cancer, it may be linked to the BRCA gene,” Dr. Tongson explains. “If the test comes back positive, it can tell us if you’re at high risk for cancer in another organ.”

What happens during a BRCA test?

First, you’ll want to talk to your primary care physician. They’ll likely refer you to a genetic counselor (a health care professional who specializes in education and training in the field of medical genetics). That person will then determine if the BRCA test is right for you. They’ll explore your risk factors and explain the pros and cons of getting the test.

Let’s say you decide to move forward with a BRCA test. There are 3 ways to get the test:

  • Blood test
  • Cheek swab
  • Saliva test

After your sample is collected, it will be sent off to a lab for analysis. When the results are in, your provider or a genetic counselor will meet with you to explain your results.

You may have seen mail-order genetic tests, which promise to reveal whether you have the BRCA gene. Dr. Tongson doesn’t recommend these.

“They don’t do a full analysis of every gene with regards to certain cancers,” she says. “If a patient has a family or personal history of cancers, they should undergo clinical lab medical-grade genetic testing.” That will help ensure that you don’t miss any potential risk factors.

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What does a positive BRCA test result mean?

A positive BRCA test result means that you carry the BRCA gene mutation. As a result, you’re at higher risk of developing certain forms of cancer, including breast cancer.

If that occurs, it’s normal to be scared. But it’s important to understand that a genetic mutation is not the same as having cancer. And now that you know you have the mutation, you can take aggressive steps to protect yourself against cancer.

“It gives you the option to take action toward preventing a cancer from forming,” says Dr. Tongson.

Recommendations for women with a BRCA mutation include:

  • Enhanced screening. With early detection, the breast cancer survival rate is 99%, according to data reported by the U.S. Department of Health and Human Services. For that reason, women with higher risk may want to start breast cancer screening at a younger age and have more frequent screenings.

In addition, they may want to include magnetic resonance imaging (MRI) alongside regular mammograms. If you are a man, you may want to talk to your doctor about regular yearly breast exams, as well as starting prostate cancer screening at around age 40. (Although rare, men can get breast cancer too.)

  • Risk-reducing surgery. If you’re a woman, you may decide to remove one or both of your breasts with surgery. You might also consider removing your ovaries and fallopian tubes to reduce your risk of ovarian cancer. According to the CDC, these are the most effective options for preventing cancers associated with BRCA mutations.
  • Preventive medication. Chemoprevention is a type of treatment that uses medication to prevent cancer. The U.S. Food and Drug Administration has approved 2 drugs for this purpose: tamoxifen and raloxifene. Some women also take a birth control pill to reduce the risk of ovarian cancer — but this may also raise the risk of breast cancer.

What’s important to remember about a BRCA test is that it doesn’t determine your fate. It simply sheds light on your overall risk. Even with a positive test, you might not get cancer. Similarly, a negative test doesn’t mean you’re risk-free.

In either scenario, you can reduce your risk of cancer by following a healthy lifestyle. Specifically, you’ll want to:

  • Exercise regularly
  • Limit alcohol
  • Maintain a healthy weight

In addition, you’ll want to get regular screening tests. Early detection is still the best way to ensure successful treatment for cancer.

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This article contains information that is not compiled by UnitedHealthcare or any of its subsidiaries. UnitedHealthcare does not represent all the information provided are statements of fact. Please consult directly with your primary care physician if you need medical advice.

Sources:

American Cancer Society. “Cancer facts for women.” October 31, 2023. Retrieved from https://www.cancer.org/cancer/risk-prevention/understanding-cancer-risk/cancer-facts/cancer-facts-for-women.html

Centers for Disease Control and Prevention. “BRCA gene mutations.” March 21, 2023. Retrieved from https://www.cdc.gov/cancer/breast/young_women/bringyourbrave/hereditary_breast_cancer/brca_gene_mutations.htm

Centers for Disease Control and Prevention. “Groups at higher risk for BRCA gene mutations.” March 21, 2023. Retrieved from https://www.cdc.gov/cancer/breast/young_women/bringyourbrave/hereditary_breast_cancer/higher_risk_brca.htm

Centers for Disease Control and Prevention. “Medical options for people with BRCA1 and BRCA2 mutations.” June 20, 2023. Retrieved from https://www.cdc.gov/genomics/disease/breast_ovarian_cancer/medical_options.htm

Centers for Disease Control and Prevention. “What can I do to reduce my risk of breast cancer?” July 25, 2023. Retrieved from https://www.cdc.gov/cancer/breast/basic_info/prevention.htm

National Cancer Institute. “BRCA gene mutations: cancer risk and genetic testing.” November 19, 2020. Retrieved from https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet

National Cancer Institute. “Drugs approved for breast cancer.” December 20, 2023. Retrieved from https://www.cancer.gov/about-cancer/treatment/drugs/breast

National Library of Medicine: MedlinePlus. “BRCA genetic test.” September 12, 2022. Retrieved from https://medlineplus.gov/lab-tests/brca-test

U.S. Department of Health and Human Services: Office on Women’s Health. “99 percent survival rate for breast cancer caught early.” October 6, 2022. Retrieved from https://www.womenshealth.gov/blog/99-percent-survival-rate-breast-cancer-caught-early

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