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 people with breast cancer, a negative test result helps guide treatment to treatment options for people who don’t have a BRCA1/2 inherited gene mutation.
- 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 surgery and may increase drug therapy options.
- Variant of uncertain significance (VUS) (the result isn’t 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 hereditary cancer 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 [6].
If you have a BRCA1/2 or other high-risk inherited gene mutation related to breast cancer, there are special breast cancer screening guidelines. For women, there are also options to help lower risk. Discuss these options with your health care provider.
Whether or not you have a gene mutation that increases the risk of breast cancer, there are things you can do that are linked to a decreased risk.
Learn about a healthy lifestyle and breast cancer risk.
Breast cancer screening guidelines for people with high-risk inherited gene mutations
Learning you have a high-risk inherited gene mutation related to breast cancer allows you to personalize your breast cancer screening plan.
Women with high-risk gene mutations are usually screened more often and start screening at a younger age than women at average risk of breast cancer.
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 people 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
- RAD51C
- RAD51D
- STK11
- TP53
The National Comprehensive Cancer Network (NCCN) has breast cancer screening guidelines for people with an inherited mutation in one of these genes. Screening recommendations may change over time as more is learned.
Personal risk factors and a family history of cancer also impact breast cancer screening recommendations.
Learn about breast cancer screening guidelines for men with a PALB2 inherited gene mutation.
Learn more about the cancer risks related to high-risk 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, you may consider a risk-lowering drug or risk-reducing surgery to help lower your risk of breast cancer. Discuss these options with your health care provider.
If you have another high-risk gene mutation related to breast cancer, you may consider a risk-lowering drug to help lower your risk. Depending on the gene mutation, you may also consider risk-reducing mastectomy. Discuss these options with your health care provider.
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 become more personalized.
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.
Healthy lifestyle
Whether or not you have a gene mutation that increases the risk of breast cancer, there are things you can do that are linked to a decreased risk.
Learn about a healthy lifestyle and breast cancer risk.
Ovarian cancer risk reduction guidelines for people with high-risk inherited gene mutations
Women with a BRCA1 or BRCA2 (BRCA1/2) inherited gene mutation (and certain other high-risk gene mutations) have an increased risk of ovarian cancer.
The National Comprehensive Cancer Network (NCCN) recommends these women have a risk-reducing bilateral salpingo-oophorectomy to reduce their risk of ovarian cancer [39]. This surgery removes the fallopian tubes and the ovaries.
Talk with your health care provider about whether a risk-reducing bilateral salpingo-oophorectomy may be an option for you. Take your time to make decisions. Don’t feel you need to rush.
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 for 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 for cancer screening and imaging.
Susan G. Komen® Patient Care Center |
If you or a loved one needs information or resources about clinical trials, the Patient Care Center can help. Contact the Komen Breast Care Helpline at 1-877-465-6636 or email clinicaltrialinfo@komen.org. Se habla español. |
BreastCancerTrials.org in collaboration with Komen offers a custom matching service to help find breast cancer risk reduction clinical trials.
You can also visit the National Institutes of Health’s website to find clinical trials.
Learn more about clinical trials.
Support
If you have a BRCA1, BRCA2 (BRCA1/2) or other high-risk inherited gene mutation, it may be helpful to join 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 |
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Updated 04/23/24