Genetic Testing to Learn About Breast Cancer Risk
Read our blog, Coming to Grips with Being Positive for a BRCA2 Gene Mutation.
Genetic testing gives people the chance to learn if their breast cancer or family history of breast cancer is due to an inherited gene mutation. For some people diagnosed with breast cancer, genetic testing can help guide treatment.
Learn about genetic testing to guide breast cancer treatment.
Genetic testing to learn about breast cancer risk
This section provides information on genetic testing to learn about breast cancer risk, including inherited gene mutations that increase breast cancer risk, direct-to-consumer genetic testing, testing for multiple high-risk gene mutations (panel testing) and other topics.
Learn about genetic counseling and the risks and benefits of genetic testing to learn about breast cancer risk.
Inherited gene mutations that increase breast cancer risk
Most women 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 [6,38]. About half of these breast cancers are related to a BRCA1 or BRCA2 inherited gene mutation (BReast CAncer genes 1 and 2) [358].
An inherited mutation in any of these genes increases the risk of breast cancer:
- ATM
- BARD1
- BRCA1
- BRCA2
- CDH1
- CHEK2
- NF1
- PALB2
- PTEN
- RAD51C
- RAD51D
- STK11
- TP53
Mutations in these genes (except for BARD1) also increase the risk of other cancers.
BRCA1 and BRCA2 (BRCA1/2) gene mutations are the most well-known of these inherited gene mutations. The others are less common and there’s still much to learn about them. Most don’t increase the risk of breast cancer as much as BRCA1/2 gene mutations do.
Some inherited gene mutations have only recently been shown to incrbease the risk of breast cancer. Data on these mutations and their related cancer risks are still emerging and will likely change over time.
High-risk inherited gene mutations
The lifetime risk of breast cancer for the average woman is about 13% [5]. High-risk gene mutations increase the lifetime risk of breast cancer to 20% or higher.
Learn more about genetic testing for high-risk inherited gene mutations.
Learn more about inherited gene mutations and breast cancer risk.
BRCA1 and BRCA2 inherited gene mutations and cancer risks
BRCA1/2 inherited gene mutations increase the risk of [38-39]:
- Breast cancer (in women and in men)
- Ovarian cancer
- Prostate cancer
- Pancreatic cancer
- Melanoma (BRCA2 mutations only)
- Uterine cancer, serous type (BRCA1 mutations only)
Learn about options to lower the risk of breast cancer and ovarian cancer in women with BRCA1/2 inherited gene mutations.
Learn more about BRCA1/2 inherited gene mutations and cancer risks in women.
Learn more about BRCA1/2 inherited gene mutations and cancer risks in men.
Why consider genetic testing?
Genetic testing gives people the chance to learn if their breast cancer or family history of breast cancer is due to an inherited gene mutation.
Hereditary cancer panel testing
In the past, breast cancer genetic testing 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.
If you’ve only had genetic testing for BRCA1/2 gene mutations in the past, you may be advised to have panel testing.
Panel tests look at 40-75 genes, depending on the specific test. Researchers are studying how information about high-risk gene mutations can help health care providers personalize medical care.
BRCA1/2 or panel testing should only be done in a medical setting. And it should only be done after a detailed discussion of the risks and benefits with a genetic counselor or a trained health care provider, such as a doctor or nurse.
If more inherited gene mutations related to breast cancer risk are found in the future, additional genetic testing for these mutations may be recommended.
Learn about genetic test results.
Who should consider genetic testing?
When is genetic testing recommended?
The National Comprehensive Cancer Network (NCCN) recommends BRCA1 and BRCA2 (BRCA1/2) genetic testing or hereditary cancer panel testing only for people with a high risk of having an inherited gene mutation related to breast cancer, or when genetic testing would help guide breast cancer treatment [39]. This includes people in the table below.
The American Society of Clinical Oncology (ASCO) guidelines on genetic testing for people diagnosed with breast cancer differ slightly from the NCCN guidelines in the table below [359].
People who should consider genetic testing for BRCA1/2 inherited gene mutations |
If you’ve been diagnosed with breast cancer and:
|
If you’ve never been diagnosed with breast cancer and have:
|
|
*Close family members include first-degree relatives (parents, siblings, children), second-degree relatives (grandparents, half-siblings, grandchildren, aunts, uncles, nieces, nephews) and third- degree relatives (great-grandparents, great-aunts, half-aunts, great uncles, half-uncles, great-grandchildren, first cousins). Source: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment—Breast, Ovarian and Pancreatic Cancer, 2024 [39] |
Learn about genetic test results.
Who else may want to consider genetic testing?
Although some people don’t meet the criteria for recommended genetic testing above, genetic testing may still be appropriate. Genetic testing may be considered for some people, including those who have [39]:
- Ashkenazi Jewish heritage, but no additional risk factors (if you meet the criteria above, genetic testing is recommended)
- A 2.5%-5% (or higher) chance of having a BRCA1/2 inherited gene mutation based on a risk assessment model that uses family history to estimate risk
Learn about genetic test results.
If you were diagnosed with breast cancer in the past
If you were diagnosed with breast cancer in the past and were only tested for BRCA1/2 inherited gene mutations (but not other inherited gene mutations related to breast cancer risk), the NCCN recommends you consider panel testing [218].
Testing may give you information about your risk of developing another cancer.
Panel testing may also help your family members better understand their risk of breast cancer and other cancers. In some cases, panel testing may help tailor their cancer screening.
Talk with your health care provider or a genetic counselor about whether it would be useful to have panel testing.
Learn about genetic testing to help guide breast cancer treatment.
When is genetic testing not likely to be useful?
Genetic testing is unlikely to find a gene mutation that impacts risk reduction, screening or treatment options in [39]:
- Women diagnosed with breast cancer after age 65 who don’t have a close family member with breast, ovarian, pancreatic or prostate cancer
- Men diagnosed with early stage or slow-growing prostate cancer who don’t have a close family member with breast, ovarian, pancreatic or prostate cancer
When is genetic testing not recommended?
If you’re the only person in your family with breast cancer, or if a family member is the only person in your family with breast cancer, and the breast cancer occurred at an older age, there’s only a very small chance that you have an inherited gene mutation related to breast cancer.
Although you always have the option of genetic testing, in most cases, it’s not recommended when there’s a very low chance of finding a gene mutation.
It’s strongly recommended you speak with a genetic counselor (or other health care provider trained in genetic counseling) before deciding whether to have genetic testing. If you don’t meet criteria for testing though, insurance may not cover the cost of genetic testing.
Most breast cancers are not due to a BRCA1/2 or other inherited gene mutation linked to breast cancer [6,38].
A genetic mutation found on a direct-to-consumer test
If a direct-to-consumer (at-home) genetic test shows you have a BRCA1/2 or other inherited gene mutation related to breast cancer, meet with a genetic counselor (or other trained health care provider) to go over the test results.
In many cases, you’ll be recommended to get re-tested or have panel testing done in a clinically-approved lab [39]. Your health care provider or a genetic counselor can arrange this testing for you.
Learn more about direct-to-consumer genetic testing.
Talking with your health care provider
If you have questions about BRCA1, BRCA2 (BRCA1/2) or other high-risk inherited gene mutations related to breast cancer or are considering genetic testing, talk with your health care provider.
Your health care provider can help you understand your breast cancer risk 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. |
Online tools to help you talk with your health care provider
There are online tools to help you talk with your health care provider about your risk of having a BRCA1/2 inherited gene mutation and your risk of breast cancer.
Keep in mind online tools can’t tell you whether or not you have a BRCA1/2 gene mutation or if you will get breast cancer. However, they may help you talk with your health care provider or a genetic counselor about these risks.
How does genetic testing work?
Testing for BRCA1, BRCA2 (BRCA1/2) and other inherited gene mutations requires a blood, saliva or cheek cell sample.
It’s best to have genetic testing done in a clinically-approved lab certified by the Clinical Laboratory Improvement Amendments (CLIA) [39]. You can get this testing through your health care provider or a genetic counselor.
Your health care provider or a genetic counselor can help you understand the test results and give you the most up-to-date medical recommendations.
If you use a direct-to-consumer genetic test, have the findings confirmed by genetic testing done in a clinically-approved lab certified by the CLIA [39]. This makes sure the results are complete and correct. Your health care provider or a genetic counselor can arrange this testing for you.
BRCA1 and BRCA2 genetic testing or hereditary cancer panel testing
In most cases, it’s recommended that genetic testing start with the family member who has breast cancer (or a related cancer, such as ovarian, pancreatic or prostate cancer).
- If no mutation is found, the cancer was unlikely due to a BRCA1/2 or other inherited gene mutation included in the test.
- If a gene mutation is found, other family members may have the same gene mutation. If that’s the case, they should consider targeted gene testing or hereditary cancer panel testing that includes that gene.
When a family member has an inherited gene mutation
Just because one person in the family has an inherited gene mutation doesn’t mean everyone in the family has the mutation. Only identical twins have the exact same genes. Other family members share some, but not all, of their genes.
You get one copy of each gene from your mother and one copy from your father. For example, your mother has two BRCA1 genes. If one of your mother’s BRCA1 genes has a mutation (and her other BRCA1 gene doesn’t have a mutation), there’s a 50% chance you’ll inherit the mutation and a 50% chance you won’t. You get one of your two BRCA1 genes from your mother and it’s random which copy you get.
If your family members with breast cancer or ovarian cancer aren’t alive or aren’t willing to be tested (or if you don’t know your family medical history), a genetic counselor can help you decide on the most informative testing option (likely panel testing).
Learn about genetic test results.
Direct-to-consumer genetic testing
What is direct-to-consumer genetic testing?
Direct-to-consumer genetic testing (at-home genetic testing) allows a person to get genetic information without involving a health care provider or insurance company.
A test kit is mailed to you. The test usually involves collecting a DNA sample at home, often by swabbing the inside of your cheek. You send the sample back for analysis and get the results by mail or telephone, or the results may be posted online.
Concerns about direct-to-consumer genetic testing
There are some concerns about most direct-to-consumer genetic testing kits, including:
- The information they provide has a high rate of error [39,360]. The genetic testing methods used by direct-to-consumer kits usually haven’t been validated for clinical use [39].
- Testing can be incomplete. They often test only for a few of the many inherited genetic mutations related to breast cancer.
- Your personal information may not be secure. It’s important to understand how the company uses your information, how it protects the information it collects and whether it shares your information with others [361].
- You must pay out-of-pocket for the testing (insurance doesn’t cover it).
Before acting on any results from a direct-to-consumer genetic test, have a genetic counselor or trained health care provider review the findings. It’s best to have the findings confirmed in a clinically-approved lab certified by the Clinical Laboratory Improvement Amendments (CLIA) [39]. Your health care provider or a genetic counselor can arrange this testing for you.
Your health care provider or a genetic counselor can help you understand the test results and give you the most up-to-date medical recommendations.
Talk with your health care provider or a genetic counselor
The process of genetic testing is complex. It’s best to meet with a genetic counselor or a trained health care provider to make decisions about testing. They can help you choose a test that meets your needs.
Your health care provider or a genetic counselor can help you correctly interpret the test results. If the testing was not done in a certified lab, your health care provider can arrange a clinical genetic test to confirm the results.
If clinical genetic testing finds a gene mutation related to breast cancer, your health care provider or a genetic counselor can help you make informed decisions about breast cancer screening and any risk reduction options that may be right for you.
Learn about genetic test results.
Genetic testing costs
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 and BRCA2 (BRCA1/2) testing if you meet the criteria for testing. Coverage of hereditary cancer panel testing varies from plan to plan. A few insurance plans require meeting with a certified genetic counselor for testing to be covered.
Genetic counseling is usually covered if you have a personal or family history of cancer or if you’ve been referred by your health care provider.
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.
Affordable Care Act coverage
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.
If you have a BRCA1/2 inherited gene mutation, the Affordable Care Act also requires coverage of counseling to help you decide if taking a medication to lower the risk of breast cancer is right for you.
Financial assistance
If your health care provider recommends genetic testing, but you don’t have insurance or 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.
Most labs have a self-pay rate of $250 or less. You may also qualify for financial assistance through the lab or the cancer genetic testing program at your hospital, if available.
FORCE offers a list of genetic testing companies with financial assistance.
Direct-to-consumer (at-home) genetic testing costs
Insurance doesn’t cover the cost of direct-to-consumer genetic testing.
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 treatments for breast cancer or ovarian cancer.
The 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 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
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 haven’t 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 is an organization that provides virtual support groups, telephone support and a resource guide for individuals and caregivers affected by hereditary breast, ovarian and other cancers.
Sharsheret offers virtual programs and peer 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 |
|
Updated 12/20/24
This content is regularly reviewed by an expert panel including researchers, practicing clinicians and patient advocates.
