Breast cancer genetic tests are accurate at determining if you have a genetic mutation that puts you more at risk for developing breast cancer. But a positive test doesn’t mean you’ll get it.

Breast cancer is the most common type of cancer in females in the United States. According to the American Cancer Society, about 1 in 8 females in the United States will develop breast cancer at some point in their lifetime.

One of the risk factors for breast cancer is genetics. It’s possible to inherit variations in certain genes from your parents that can increase your breast cancer risk.

It’s estimated that between 5% to 10% of breast cancers result from inherited gene variations. Genetic testing can help detect gene variations that raise your risk of developing breast cancer.

Learn how genetic testing for breast cancer risk works, what the results mean, and more.

Genetic testing for breast cancer risk typically uses a sample of:

  • blood
  • saliva
  • cells from the inside of your cheek

After the sample is collected, it’s sent to a lab specializing in genetic testing to be analyzed.

Several gene variations that increase breast cancer risk have been found. The most important are those in the BRCA1 and BRCA2 genes.

According to the National Cancer Institute, about 1 in 400 people have a harmful BRCA variation.

More than 60% of women who inherit harmful BRCA1 or harmful BRCA2 variations will develop breast cancer in their lifetime. Their risk of getting breast cancer in both breasts is also higher.

Other gene variants that may raise breast cancer risk include:

  • PALB2
  • CHEK2
  • ATM
  • PTEN
  • TP53

Gene variations that can be detected may vary by test. For example, some tests may only cover the most common variations, while others may be more extensive.

It can take several weeks to receive your results once your sample is submitted. A healthcare professional or genetic counselor will contact you to discuss your results.

Results you can receive include:

  • Positive: A known gene variation that increases your risk of breast cancer was detected.
  • Negative: A known gene variation that raises your risk of breast cancer was not detected.
  • Variant of unknown significance: A variant has been found in a gene, such as BRCA1 or BRCA2, but its impact on breast cancer risk is currently unknown.

Genetic testing results can be complex. New research is continually identifying how genes put some people more or less at risk. Work with a genetic counselor to help understand what your results mean so you can plan for the next steps.

Genetic counselors are trained to look at patients holistically and to develop plans alongside your doctor so that you can make the best decisions possible for your health.

Generally speaking, genetic testing is quite accurate at detecting known genetic variants, but it’s not 100% accurate at determining whether you’ll get breast cancer. These tests can only tell you whether or not you’re at an increased risk for developing it later on.

Receiving a positive result means that, compared to the general population, you’re at an increased risk of developing breast cancer. Different gene variations can be linked to different levels of risk.

A positive result doesn’t mean that you’re certain to get breast cancer in the future. In fact, it’s possible you’ll never develop breast cancer. Your genetic counselor can give you a better idea of your breast cancer risk.

According to the Centers for Disease Control and Prevention (CDC), women who test positive for either a BRCA1 or BRCA2 gene mutation have a 50% chance of developing breast cancer by age 70.

Similarly, a negative result doesn’t mean that you’ll never develop breast cancer.

Tests don’t always cover a broad range of gene variations. It’s possible that you may have a harmful variation that wasn’t covered by your test.

Continue breast cancer screenings

Breast cancer can still develop in people without an increased genetic risk.

Therefore, it’s important to continue to get regular breast cancer screenings and make lifestyle choices that can help prevent breast cancer.

Some at-home genetic tests can help you determine breast cancer risk. These tests typically involve providing a sample of saliva or cheek cells and sending the sample by mail to be tested.

It’s recommended that you seek genetic testing from a healthcare professional rather than using an at-home test for the following reasons:

  • An incomplete result: At-home tests may not cover all known variants of a gene, such as BRCA1 or BRCA2. Because of this, a negative result can be misleading.
  • Unnecessary alarm: At-home tests may detect common genetic variants that are only associated with a slight increase in breast cancer risk, meaning that a positive result may cause unnecessary alarm.
  • Genetic counseling: With genetic testing through a healthcare professional, you’ll often also have access to genetic counseling both before and after you receive your result. This can help you better understand your result in the context of your overall health, and help you understand how to use this information to make decisions to protect your and your family’s health.
  • Privacy: Your privacy may not be ensured when you use an at-home test. If you do choose to use one, carefully review a company’s disclosure policy beforehand.

Getting genetic testing for breast cancer risk has several benefits. But there are some risks involved as well.

Benefits

A positive result can empower you to take preventive steps, including:

Family members can also learn about their own breast cancer risk from your results. If you receive a positive result, close family members like parents, siblings, and children could have the same variation as you. This may prompt them to seek testing as well.

A negative test can give you a feeling of relief or peace of mind, knowing that you didn’t inherit certain variants. Meanwhile, a positive result can help you be proactive about your future and preventive steps.

Risks

Genetic testing may have a negative psychological impact on some individuals. Some people may have feelings of stress or anxiety about their future after receiving a positive or inconclusive result.

It’s also expected to feel stress or uncertainty about whether to share your results with family members. Some may not want to know. If they do ask you to share, it could cause stress or anxiety.

You may also feel guilt if genetic testing indicates that you haven’t inherited a harmful variation, but other family members have.

Lastly, genetic testing for breast cancer risk may also be expensive and is not covered by some insurance plans.

Because most breast cancer isn’t caused by inherited variations, genetic testing for breast cancer risk isn’t currently recommended for the general public. Genetic testing may be recommended if you:

If you’re concerned about inherited breast cancer risk, talk with a healthcare professional or a genetic counselor. They can help to determine if genetic testing is recommended for you.

The cost of genetic testing for breast cancer risk varies based on the extent of the testing. Testing for common harmful variants in BRCA1 and BRCA2 may be less expensive than a test that looks at multiple genes.

Genetic testing for breast cancer risk can cost anywhere between $100 to $4,000. Ask a healthcare professional or genetic counselor about what’s included in a test and how much it will cost.

Many health insurance plans will cover genetic testing if it’s determined to be medically necessary. It’s important to check with your insurance provider beforehand about what’s covered.

Depending on whether you’re deciding to take a genetic test or have already received results, here are the next steps you should take.

Talk with a healthcare professional

Speak with a healthcare professional if you’re considering genetic testing for breast cancer.

A thorough review of your personal and family medical history can help determine if genetic testing will be useful for learning about your breast cancer risk.

Talk with a genetic counselor

A genetic counselor can work with you to give you more information about genetic testing.

This can include discussing the pros and cons, what the results can and cannot tell you, and the potential impact of different results.

Moving forward with testing

Once you’ve taken the test, a genetic counselor can help you interpret your results. Based on your results, they’ll also recommend potential next steps.

Deciding not to test

If you choose not to do genetic testing, continue to get regular physicals, check-ups, and breast cancer screenings.

You can also take steps in your day-to-day life to help reduce your risk of breast cancer, including:

Resources

The following resources may be helpful as you explore genetic testing for breast cancer:

  • Breastcancer.org: Breastcancer.org has a wealth of information on various topics related to genetic testing for breast cancer.
  • The National Society of Genetic Counselors (NSGC): A healthcare professional may recommend a genetic counselor. If not, the NSGC has a searchable database of certified genetic counselors across the country.
  • Genetic Testing Registry (GTR): The GTR is a searchable database that provides specific information about the genetic tests performed by different clinical laboratories.
  • Facing Hereditary Cancer Empowered (FORCE): FORCE is an advocacy group for individuals who have or are concerned about inherited cancers. They offer helpful information about ways to find low cost genetic testing.

You can test your risk for breast cancer by seeing a genetic counselor or performing an at-home test. But at-home tests are not as accurate as seeing a healthcare professional to determine if you’re at risk for getting breast cancer during your lifetime.

Talk with your doctor about genetic testing for breast cancer if you have a family history of breast cancer, BRCA gene mutations, or a previous diagnosis of breast cancer.