Genetic Testing After a Breast Cancer Diagnosis
Genetic testing may be recommended for you if you’ve been diagnosed with early or metastatic breast cancer. Genetic testing looks for inherited gene mutations in a person.
If you have breast cancer, genetic testing:
- May help guide your breast cancer treatment
- Gives you the chance to learn if your breast cancer is related to an inherited gene mutation (some inherited gene mutations increase the risk of breast cancer, and this information can be important for your family members)
Testing for tumor gene mutations
Testing for tumor gene mutations may be done after a metastatic breast cancer diagnosis. The tests look at the genes in the cancer cells. Some may call these genomic tests.
Tests for tumor gene mutations don’t look at your personal, inherited genes. Tumor gene mutations are in the breast cancer cells, not in the normal cells of your body.
A sample of tumor tissue or circulating tumor DNA is checked for gene mutations in the cancer cells.
For some people with breast cancer, tumor gene testing can help guide treatment.
Genetic testing to guide breast cancer treatment
Some breast cancer treatments are only given to people who have certain inherited gene mutations. If one of these treatments is being considered for your treatment plan, your health care provider will recommend genetic testing.
Genetic testing may help guide:
The National Comprehensive Cancer Network (NCCN) and the American Society of Clinical Oncology (ASCO) each have guidelines on who should be tested for BRCA1, BRCA2 and other high-risk inherited gene mutations [10,317]. These guidelines differ slightly.
Early breast cancer – genetic testing to guide treatment
Surgery for early breast cancer
Some inherited gene mutations put you at a high risk of getting breast cancer in the opposite breast. This may affect your breast cancer surgery decisions. A health care provider may recommend you consider a mastectomy instead of a lumpectomy.
Women with some inherited gene mutations may also consider a risk-reducing contralateral (opposite breast) mastectomy. Risk-reducing contralateral mastectomy (contralateral prophylactic mastectomy) is the removal of the opposite breast in a woman diagnosed with breast cancer in one breast. It’s usually done at the same time as breast cancer surgery.
Women with a high-risk mutation in one of these genes may consider risk-reducing contralateral mastectomy to lower their risk of breast cancer in the opposite breast [8]:
- BRCA1
- BRCA2
- CDH1
- PALB2
- PTEN
- STK11
- TP53
Learn more about risk-reducing contralateral mastectomy.
Learn about breast reconstruction.
Learn more about inherited gene mutations.
Drug therapies for early breast cancer
The PARP inhibitor olaparib (Lynparza) is used to treat some HER2-negative early breast cancers in people who have a BRCA1 or BRCA2 (BRCA1/2) inherited gene mutation [10].
If olaparib is being considered in your treatment plan, you’ll have genetic testing for BRCA1/2 inherited gene mutations.
Learn more about olaparib in the treatment of early breast cancer.
Metastatic breast cancer – genetic testing to guide treatment
The National Comprehensive Cancer Network (NCCN) recommends everyone diagnosed with metastatic breast cancer get genetic testing for BRCA1 and BRCA2 (BRCA1/2) inherited gene mutations [10]. People who have an inherited mutation in one of these genes may have a PARP inhibitor drug included in their treatment plan [10].
As we learn more and breast cancer treatment becomes more personalized, inherited gene mutations may help guide other parts of breast cancer treatment, such as the use of other drug therapies.
Learn more about treatments for metastatic breast cancer.
Testing for tumor gene mutations
Sometimes, breast cancer tissue is checked for tumor gene mutations. These tumor gene mutations are in the breast cancer, not in your normal (non-cancer) cells.
Tumor gene mutations help guide treatment for some metastatic breast cancers. In some cases:
- When the metastatic tumor has a PIK3CA gene mutation, the PI3 kinase inhibitor drug alpelisib (Piqray) may be part of the treatment plan
- When the metastatic tumor has a PIK3CA, AKT or PTEN gene mutation, the AKT inhibitor drug capivasertib (Truqap) may be part of the treatment plan
- When the metastatic tumor has a ESR1 gene mutation, the hormone therapy drug elacestrant (Orserdu) may be part of the treatment plan
Sometimes, tumor testing finds a BRCA1/2 or other gene mutation in the tumor that could also be an inherited gene mutation in the person. In these cases, genetic testing for the person may be done [8].
Genetic testing to learn about breast cancer risk
Most people who get breast cancer don’t have an inherited gene mutation related to breast cancer. In the U.S., 5%-10% of breast cancers are related to a known inherited gene mutation [232,254].
However, the National Comprehensive Cancer Network (NCCN) recommends genetic testing for people who may be more likely than others to have an inherited gene mutation related to risk [8].
In the past, breast cancer genetic testing often only checked for inherited gene mutations in BRCA1 and BRCA2 (BRCA1/2) genes. Now it’s common to be tested for BRCA1/2 and multiple other high-risk gene mutations. This is called hereditary cancer panel testing.
Panel tests look at 48-77 genes, depending on the specific test.
Learn about inherited gene mutations related to breast cancer risk and when genetic testing is recommended to learn whether your breast cancer is related to an inherited gene mutation.
Learn more about panel testing.
Benefits of genetic testing for inherited gene mutations related to breast cancer risk
Genetic testing may give you information about your risk of developing another cancer, such as ovarian cancer (for women) or prostate cancer (for men).
It may also help your family members better understand their risk of breast cancer and other cancers. In some cases, genetic testing may help tailor cancer screening.
Talk with your health care provider or a genetic counselor about whether it would be useful to have genetic testing.
Learn more about genetic testing for inherited gene mutations related to breast cancer risk.
Should I get genetic counseling?
You may want to talk with a genetic counselor (or other health care provider trained in genetic counseling) before or after you have genetic testing.
If you’re considering genetic testing to learn whether you have an inherited gene mutation related to breast cancer risk, it’s recommended you talk with a genetic counselor before genetic testing. A genetic counselor can help you determine whether genetic testing would give you useful information and can discuss the benefits and risks of testing with you.
If you’re getting genetic testing to help guide your breast cancer treatment, talking with a genetic counselor before or after testing can help you learn whether your test results affect you and your family’s risk of breast cancer and other cancers.
Your health care provider can refer you to a genetic counselor.
For more information on genetic counseling, visit the National Cancer Institute’s website (or call 1-800-4-CANCER) or visit the National Society of Genetic Counselors’ website.
The National Society of Genetic Counselors has an online directory to help you find a genetic counselor.
Learn more about genetic counseling and weighing the risks and benefits of genetic testing to learn about breast cancer risk.
Talking with your health care provider
If you have questions about inherited gene mutations related to breast cancer or genetic testing for treatment decisions, talk with your health care provider.
Your health care provider can help you understand how genetic testing may help you and can refer you to a genetic counselor if needed.
My Family Health History Tool |
My Family Health History tool is a web-based tool that makes it easy for you to record and organize your family health history. It can help you gather information that’s useful as you talk with your family members, doctor or genetic counselor. |
How does genetic testing work?
Testing for inherited gene mutations requires a blood, saliva or cheek cell sample. Your health care provider will arrange genetic testing for you.
Genetic test results
Genetic test results and treatment
Genetic test results show if you have a BRCA1, BRCA2 or other inherited gene mutation that may help guide your breast cancer treatment.
Talk with your health care provider about how the results of your genetic test affect your treatment plan.
Genetic test results and cancer risk
If your test results show a genetic mutation related to breast cancer risk, talk with a genetic counselor (or other health care provider trained in genetic counseling). They can discuss how the mutation affects your risk of other cancers and your family’s risk of breast cancer and other cancers.
Learn more about genetic test results.
Learn more about genetic testing related to breast cancer risk.
Genetic testing costs
Cost of genetic testing to guide breast cancer treatment
If your health care provider recommends genetic testing to help guide your breast cancer treatment, insurance usually covers the cost. However, it’s best to check with your health insurance company to find out whether genetic testing costs are covered in your plan.
Your health care provider or a genetic counselor can help you determine if your insurance will cover genetic testing.
Learn about steps to take if your insurance company denies your claim for genetic testing.
Cost of genetic testing to learn about inherited gene mutations related to breast cancer risk
If you’re getting genetic testing to learn whether your breast cancer is related to an inherited gene mutation that increases breast cancer risk, check with your health insurance company to find out whether the costs of genetic counseling and genetic testing are covered in your plan.
Most insurance plans cover the cost of BRCA1, BRCA2 (BRCA1/2) and other genetic testing if you meet the criteria for testing. Coverage of hereditary cancer panel testing varies from plan to plan.
The Affordable Care Act requires insurance plans that began on or after August 1, 2012 to cover genetic testing costs when testing is recommended by a health care provider.
Genetic counseling is usually covered if you meet the criteria for testing or have a personal or family history of cancer.
Your health care provider or a genetic counselor can help you determine if your insurance will cover BRCA1/2 or panel testing.
Learn about steps to take if your insurance company denies your claim for genetic testing.
Financial assistance
If your health care provider recommends genetic testing, but you don’t have insurance, your insurance plan doesn’t cover genetic testing costs, or you can’t afford the co-payment, there may be financial assistance programs to help. You may also qualify for financial assistance through the lab or the cancer genetic testing program at your hospital.
Most labs have a self-pay rate of $300 or less.
FORCE offers a list of genetic testing companies with financial assistance.
Clinical trials
People with a BRCA1, BRCA2 or other high-risk inherited gene mutation may have the chance to join clinical trials for new breast cancer treatment methods.
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 clinical trials that fit your health needs.
You can also visit the National Institutes of Health’s website to find clinical trials.
Learn more about clinical trials.
Support
People diagnosed with breast cancer who have a BRCA1, BRCA2 (BRCA1/2) or other high-risk inherited gene mutation may benefit from joining a support group 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 support for people who have breast cancer related to inherited gene mutations. Sharsheret offers online support for Jewish women with 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 04/09/24