Understanding Your Genetic Test Results

Genetic test results

Genetic test results show if you have a BRCA1, BRCA2 (BRCA1/2) or other inherited gene mutation related to breast cancer. For some people with breast cancer, test results help guide treatment.

There are 3 possible results:

  • Benign or likely benign variant (the test is negative, meaning the results are normal). The test shows normal findings with no gene mutations that increase the risk of breast cancer. For some people with breast cancer, a negative test result helps guide treatment.
  • Pathogenic or likely pathogenic variant (the test is positive). The test shows a gene mutation that increases the risk of breast cancer and possibly other cancers, such as ovarian cancer (in women) and prostate cancer (in men). For some people with breast cancer, a positive test result helps guide treatment and may increase drug therapy options.
  • Variant of uncertain significance (VUS) (the result is not conclusive, but is probably negative). The test shows a minor change in the gene that needs more study.

Learn more about how genetic test results help guide treatment in some people who have breast cancer.

Variant of uncertain significance (VUS)

A VUS test result isn’t conclusive. However, most of the time, minor changes in a gene turn out to be normal (benign) variants. Most VUS results do not impact the gene’s ability to work, meaning they don’t increase the risk of breast cancer. VUS results are usually treated similar to negative results.

VUS results are much more common with expanded panel testing than with BRCA1/2 genetic testing. Panel testing looks at many genes (not just BRCA1/2 genes). With more genes in the test, it’s more likely you’ll get a VUS.

Over time, the lab may clarify the meaning of the VUS and send an updated test report to the health care provider who ordered the test. You should be notified if the VUS gets updated.

You can also check with the health care provider (or hospital) who ordered the test every 1-2 years to see if there’s any new information about the VUS. While this may seem like a long time to wait, the information isn’t likely to change very often.

A VUS test result can be confusing. If you have any questions, meet with a genetic counselor or other trained health care provider to go over the results.

After you get your genetic test results

No matter the results of a genetic test, you may have an emotional response (learn more).

Remember, having a BRCA1 or BRCA2 (BRCA1/2) inherited gene mutation or other inherited gene mutation that increases the risk of breast cancer doesn’t mean you’ll get breast cancer.

Some people with an inherited gene mutation never get breast cancer. And, people without an inherited gene mutation are still at risk. Most women who get breast cancer don’t have an inherited gene mutation or a family history of breast cancer [4].

If you have a BRCA1/2 gene mutation, there are special cancer screening guidelines. For women, there are also options to help lower risk. Discuss these options with your health care provider.

There are breast cancer screening and risk reduction guidelines for some other high-risk and moderate-risk gene mutations. As we learn more about these mutations, guidelines can become more personalized.

Whether or not you have a gene mutation that increases the risk of breast cancer, there are things you can do to help lower your risk.

Learn about a healthy lifestyle and breast cancer risk.

Breast cancer screening guidelines for people with high-risk or moderate-risk inherited gene mutations

Learning you have a high-risk or moderate-risk inherited gene mutation related to breast cancer allows you to personalize your breast cancer screening plan.

Women with some high-risk or moderate-risk gene mutations are screened more often and start screening at a younger age than other women.

Breast cancer screening for people with BRCA1 and BRCA2 inherited gene mutations

Learn about breast cancer screening recommendations for women with BRCA1/2 inherited gene mutations.

Learn about cancer screening recommendations for men with BRCA1/2 inherited gene mutations.

Breast cancer screening for women with other high-risk inherited gene mutations

There are special screening recommendations for women with some other inherited gene mutations that increase the risk of breast cancer, including:

  • ATM
  • BARD1
  • CDH1
  • CHEK2
  • NF1
  • PALB2
  • PTEN
  • TP53

Data on these gene mutations and their related breast cancer risks are still emerging and will likely change over time as more is learned.

A woman’s personal risk factors and family history of cancer also impact breast cancer screening recommendations.

Learn more about the cancer risks related to these inherited gene mutations.

Breast cancer risk reduction guidelines for people with high-risk inherited gene mutations

If you have a BRCA1 or BRCA2 (BRCA1/2) inherited gene mutation, there are options to help lower your risk. Discuss these options with your health care provider.

Women with certain other high-risk gene mutations may also consider risk-lowering drugs or preventive surgery to lower their risk of breast cancer. However, risk reduction guidelines for women with other high-risk gene mutations are less clear than those for women with BRCA1/2 mutations. As more is learned about these other high-risk mutations, guidelines can be more personalized.

Whether or not you have a gene mutation that increases the risk of breast cancer, there are things you can do to help lower your risk.

Learn about a healthy lifestyle and breast cancer risk.

Risk-lowering options for breast cancer

If you have a BRCA1/2 inherited gene mutation, talk with your health care provider about the pros and cons of these options.

There are risk reduction guidelines for women with some of the other high-risk gene mutations. However, these guidelines may be less clear than those for women with BRCA1/2 gene mutations. As more is learned about these other high-risk mutations, guidelines can be more personalized.

If you have a high-risk gene mutation, talk with your health care provider about whether a risk-lowering drug or preventive surgery may be an option for you.

Take your time to make decisions about risk-lowering options. Don’t feel you need to rush.

Learn more about options for women at high risk.

Risk-lowering options for ovarian cancer

Women who have a BRCA1/2 inherited gene mutation (and certain other high-risk gene mutations) have an increased risk of ovarian cancer. These women may consider prophylactic oophorectomy to reduce their risk of ovarian cancer.

Screening methods to detect early stage ovarian cancer are under study.

Learn more about risk-lowering options for women at high risk.

Clinical trials

People with a BRCA1, BRCA2 (BRCA1/2) or other high-risk inherited gene mutation may have the chance to join clinical trials on new screening, risk reduction and treatment methods for breast cancer or ovarian cancer.

The National Comprehensive Cancer Network (NCCN) encourages people with a BRCA1/2 gene mutation to consider participating in clinical trials on cancer screening and imaging.

Susan G. Komen® Breast Care Helpline

If you or a loved one needs information or resources about clinical trials, call the Komen Breast Care Helpline at 1-877 GO KOMEN (1-877- 465- 6636) or email clinicaltrialinfo@komen.org.

Se habla español.

BreastCancerTrials.org in collaboration with Susan G. Komen® offers a custom matching service to help find clinical trials on breast cancer risk reduction.

You can also visit the National Institutes of Health’s website to find clinical trials.  

Learn more about clinical trials.  

Support

People who have a BRCA1, BRCA2 (BRCA1/2) or other high-risk inherited gene mutation may benefit from joining a support group.

There are support groups for people with BRCA1/2 gene mutations who have not had cancer and support groups for people with BRCA1/2-related cancers.

Our Support section offers a list of resources to help find local and online support groups.

For example, FORCE offers online and telephone and telephone support for people at higher risk of breast, ovarian or other cancers related to family history or inherited gene mutations.

Sharsheret offers online support for Jewish women affected by hereditary breast and/or ovarian cancer. It also offers one-on-one calls with a genetic counselor to discuss genetic testing and related issues for you and your family.

SUSAN G. KOMEN® SUPPORT RESOURCES

  • If you or a loved one needs more information about breast health or breast cancer, call the Komen Breast Care Helpline at 1-877 GO KOMEN (1-877-465-6636). All calls are answered by a trained specialist or oncology social worker in English and Spanish, Monday through Friday from 9:00 a.m. to 10:00 p.m. ET. You can also email the helpline at helpline@komen.org. Se habla español.
  • We offer an online support community through our closed Facebook Group – Komen Breast Cancer group. The Facebook group provides a place where those with a connection to breast cancer can discuss each other’s experiences and build strong relationships to provide support to each other. Visit Facebook and search for “Komen Breast Cancer group” to request to join the closed group.
  • Our fact sheets, booklets and other education materials offer additional information.

Updated 11/01/22