If you’ve ever heard of BRCA genes, chances are you’ve wondered a time or two whether you might be one of the unlucky individuals who has this type of gene mutation. Whatever your questions are about the BRCA genes, their mutations, and testing, we’ve got your answers here.

What are BRCA gene mutations?

BRCA1 and BRCA2 are genes that occur naturally within the human genome. Their name stands for “BReast CAncer gene,” but they do not cause cancer in their non-mutated states.

However, some people have mutations on one or both of these genes, which increases their risk of developing cancer. Because these mutations are genetic, a person with a BRCA gene mutation may also pass the same mutation down to their children, thereby possibly increasing the risk of breast and other types of cancers in generations to come.

Double-helix DNA strand with lit-up area where gene mutation has occurred
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How common are BRCA gene mutations?

In the U.S., roughly 1 in 400 people has a BRCA gene mutation, although that figure varies by ethnicity. Ashkenazi Jewish individuals, for example, have a 1 in 40 chance of having a BRCA gene mutation.

What are the benefits of getting tested for a BRCA gene mutation?

The main benefit of getting tested for a BRCA1 or BRCA2 gene mutation is that you’ll have more knowledge about your cancer risk and the potential cancer risk of your blood relatives. Knowing that you’re predisposed to developing cancer may help you make proactive decisions about preventative measures you can take or screening you can do regularly to catch cancer early.

BRCA gene mutation testing may also serve as a motivating force to help people with a BRCA mutation live healthier lifestyles and prevent cancer to the best of their abilities.

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What are the risks of getting tested for a BRCA mutation?

As with any other test, BRCA gene mutation testing does not come without risks. For starters, you may discover that you are positive for a BRCA gene mutation and opt to have expensive and life-altering surgery to prevent it when you may never have developed cancer at all, despite the mutation. In other words, you may scare yourself into getting unnecessary medical procedures when it may have been a better idea to simply monitor the situation closely.

Getting a negative result on a BRCA gene mutation test can also lull a person into a false sense of security. Although BRCA gene mutations are some of the most prevalent cancer-causing gene mutations, they are not the only gene mutations that increase your risk for breast and other cancers. Even if you test negative, you should still get screened for cancer at the recommended intervals and perform self-exams on your breasts each month.

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At what age can I get tested for a BRCA gene mutation? Are there other criteria?

Most people are never tested for BRCA gene mutations. The criteria for getting a test are largely based on the individual’s family history and unique set of circumstances. If breast or ovarian cancer runs in your family, for example, you’re more likely to be a good candidate for testing. You’re also more likely to be a good candidate if you’re a woman and if you’re above the age of 50. However, any person can request a BRCA gene mutation test—they may just have a harder time getting insurance coverage for the test.

Will my insurance cover BRCA gene testing?

Meeting certain criteria will likely make a difference in whether your insurance will cover BRCA gene mutation testing. The criteria vary by insurance plan, but they may include a family history of cancer, a personal history of cancer, being a woman over the age of 50, and more.

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How much does it cost to get tested for BRCA gene mutations?

What you will pay for a BRCA gene mutation blood test depends largely on your insurance plan. You may have a co-pay amount or a certain percentage you’re required to pay, or you may have to pay the full cost of the testing if you have not yet met your deductible on a high-deductible health plan.

If you have no insurance, you may be eligible for free testing at certain laboratories. Anyone paying out of pocket, whether or not they have insurance, may also be able to get a discounted rate at some laboratories. A few medical centers even have charity funds that help cover the costs of testing for their patients.

The cost of the testing depends largely on the laboratory you go to. Self-pay testing often starts at around $250, although it often runs between $475 and $4,000.

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Can I get a test kit to test at home?

BRCA gene mutation testing can be done at home with a kit. 23AndMe, for example, is a genetic testing company that offers at-home BRCA gene mutation testing at a more reasonable price than you might find at a traditional laboratory. These types of tests involve collecting saliva in a test tube and mailing it back to the company for testing.

At-home testing is not for everyone. Insurance will not cover at-home BRCA mutation testing, and your physician won’t be in the loop about your results—you’ll be on your own in deciding how to move forward after getting your results. At-home testing can also be less accurate, because traditional laboratories are required to follow federal and state regulations and quality-control procedures that at-home tests are not subject to.

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Do I need a genetic counselor?

Genetic counselors can help you better understand the testing process and what type of BRCA gene mutation testing is best for you. They can also help you comprehend your test results and make good decisions about the next steps you should take.

Each individual should make their own decision about whether to consult with a genetic counselor. However, genetic counselors are a good resource to turn to before making any big decisions about medical procedures like a double mastectomy or oophorectomy, as there can be significant risks and downsides to such procedures. You should fully understand all your options before making medical decisions that may impact the rest of your life.

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What does it mean if I test positive for a BRCA gene mutation?

A positive BRCA gene mutation test result does NOT mean that you have breast or ovarian cancer or any other type of cancer. What it does mean is that your overall lifetime risk of developing breast cancer and other cancers is greater than that of the general population. The exact risk level you have will depend on which BRCA gene mutation you have and your individual circumstances.

“Approximately 12% of women in the general population will develop breast cancer at some point in their lives. But, for women with a BRCA1 or BRCA2 mutation, the risk of developing breast cancer increases to as much as 72%,” says Katherine Clayback, MS, CGC, Genetic Counselor with Roswell Park’s Clinical Genetics Service. “Likewise, about 1 to 2% of women in the general population will develop ovarian cancer sometime during their lives, but up to 44% of women who inherit a harmful BRCA1 mutation and about 17% of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by the age of 80.”

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Having a BRCA gene mutation does mean that your blood relatives are more likely to possess the same mutation, although this isn’t always the case. If you are diagnosed with a BRCA gene mutation, it may be wise to alert family members who may desire to get tested as well.

For the most part, BRCA gene mutations affect women and have little impact on men. However, men with BRCA mutations do have an increased risk of breast, testicular, prostate, and pancreatic cancers.

There may even be a silver lining for some people with a BRCA gene mutation. For those women who develop ovarian cancer, their five-year survival odds are better than the odds for women who don’t carry a BRCA gene mutation, because BRCA-related ovarian cancers tend to respond better to chemotherapy.

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What’s the difference between BRCA1 and BRCA2?

The two BRCA genes perform similar functions, but the BRCA1 gene is located on the 17th chromosome, while BRCA2 is located on the 13th chromosome.

BRCA1 mutations are associated with an increased risk of breast, ovarian, pancreatic, cervical, uterine, and colon cancers. They also come with an added risk of triple-negative breast cancer, which is a particularly aggressive type that can be hard to treat. Women with BRCA1 mutations have a slightly higher risk of developing breast cancer by age 70 than women with BRCA2 mutations.

BRCA2 mutations, on the other hand, increase the risk of breast, ovarian, pancreatic, gallbladder, bile duct, and melanoma cancers. Males with a BRCA2 mutation have a 6% lifetime risk of developing breast cancer, six times higher than males with a BRCA1 mutation.

BRCA gene mutation testing is not meant to scare patients—rather, it is used to inform people about their genetic risk for different types of cancers. BRCA gene mutations do not mean you have cancer or will ever get cancer, but they do increase your risk, so it’s best to talk to a doctor or genetic counselor about your risk and the alternatives available to you.

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