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.
Most women who get breast cancer do not have an inherited gene mutation.
In the U.S., 5-10 percent of breast cancers are linked to an inherited gene mutation [3,24]. About half of these are linked to a BRCA1 or BRCA2 gene mutation (BReast CAncer genes 1 and 2) .
People with a BRCA1/2 mutation have a greatly increased risk of breast cancer and (for women) ovarian cancer [3,24]. However, there are some options for lowering these risks.
Learn more about BRCA1/2 mutations and breast cancer risk.
BRCA1/2 testing is only recommended for certain people with a high risk of having a BRCA1/2 gene mutation, including those with :
There is only a very small chance your family carries a BRCA1/2 mutation if you or a family member is the only person in your family with breast cancer and the breast cancer occurred at an older age.
In most cases, genetic testing is not recommended when there is a low chance of finding a mutation.
Most breast cancers are not due to a BRCA1/2 or other inherited gene mutation linked to breast cancer [3,24].
If a direct-to-consumer (at-home) genetic test shows you have a BRCA1/2 or other inherited gene mutation linked to breast cancer, it’s recommended you have the findings confirmed by genetic testing done in a clinically-approved lab . You can get this testing through your health care provider or a genetic counselor.
Learn more about direct-to-consumer genetic testing.
If you have questions about BRCA1/2 gene mutations or are considering testing, talk with your health care provider.
Your provider can help you understand your risk and can refer you to a genetic counselor if needed.
My Family Health History tool
Susan G. Komen® has adapted the Surgeon General's "My Family Health Portrait" tool. My Family Health History tool is a web-based tool that is simple to fill out and makes it easy for you to record and organize your family health history. This tool will help you gather information that will be useful for you and your doctor or genetic counselor.
There are a few online tools to help you talk with your provider about your risk of having a BRCA1/2 mutation and your risk of breast cancer.
Keep in mind online tools can't tell you whether or not you have a BRCA1/2 mutation or if you will get breast cancer. However, they may help you talk with your provider or a genetic counselor about these risks.
The Centers for Disease Control and Prevention (CDC) along with breast cancer advocacy organizations (including Susan G. Komen®) created an online tool called Know: BRCA.
Know: BRCA can help younger women assess their risk of having a BRCA1/2 mutation and may be useful when talking with a provider or a genetic counselor about this risk.
It's strongly recommended you speak with a genetic counselor (or other health care professional trained in genetic counseling) before deciding whether to be tested for BRCA1/2 or other gene mutations.
Only people who meet the criteria above should consider testing. A genetic counselor can help you determine whether you meet these criteria.
A genetic counselor can also discuss the benefits and risks of testing with you.
For more information on genetic counseling, visit the National Cancer Institute's website (or call its hotline at 1-800-4-CANCER) or the National Society of Genetic Counselors' website.
The National Society of Genetic Counselors also has an online directory to help you find a genetic counselor.
A health care provider or genetic counselor can talk with you about the risks, benefits and issues you may face when you are considering genetic testing.
Testing for a BRCA1/2 gene mutation requires a blood or saliva sample.
There can be physical, emotional and financial impacts of knowing your genetic status. That's why testing for a BRCA1/2 mutation is only recommended for people who fall into one of the categories listed above.
Even if it’s recommended, genetic testing is a personal decision. A genetic counselor can help you decide if BRCA1/2 testing is right for you.
For more information on genetic counseling, visit the National Cancer Institute’s website (or call its hotline at 1-800-4-CANCER) or the National Society of Genetic Counselors’ website.
Learn about genetic test results.
In most cases, the person with cancer is tested first.
Just because one person in the family has a 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.
For example, if your mother has a BRCA1 mutation, there's a 50 percent chance you will have a BRCA1 mutation (you get half of your genes from your mother and half from your father).
If your family members with breast cancer or ovarian cancer are deceased or aren't willing to be tested (or if your family medical history is unknown), a genetic counselor can help you decide whether it would be useful to have BRCA1/2 testing.
Learn about genetic test results.
About half of all breast cancers due to an inherited gene mutation are caused by a BRCA1 or BRCA2 gene mutation .
In addition to BRCA1/2 mutations, these inherited gene mutations can increase the risk of breast cancer:
Some of these gene mutations also increase the risk of other cancers.
These gene mutations are more rare than BRCA1/2 mutations and there’s still much to learn about them. Most of these mutations don’t increase the risk of breast cancer as much as BRCA1/2 mutations do. Some have only recently been shown to increase the risk of breast cancer and data on the mutations and their cancer risks are still limited.
Learn more about inherited gene mutations and breast cancer risk.
In the past, breast cancer genetic testing only checked for mutations in BRCA1/2 genes.
Now, it’s common to be tested for BRCA1/2 along with multiple other high-risk gene mutations. This is called panel or multi-gene testing.
Panel tests look at 25-50 genes, depending on the specific test. Researchers are studying how information from other high-risk gene mutations can help health care providers personalize medical care.
As with BRCA1/2 genetic testing, panel testing should only be done in a medical setting after a detailed discussion of the risks and benefits with a genetic counselor or a trained health care provider such as a physician or nurse.
Similar to women with BRCA1/2 mutations, there are special breast cancer screening recommendations for women with one of these gene mutations:
Mutations in any of these genes increases breast cancer risk (the amount of risk varies gene to gene).
A woman’s personal and family history of cancer also impact breast cancer screening recommendations.
Some women may also consider risk-lowering drugs or preventive surgery to lower their risk of breast cancer.
If you were diagnosed with breast cancer in the past and tested negative for BRCA1/2 mutations before testing for multiple gene mutations was common, you may want to consider panel testing.
Genetic testing results will probably not impact your breast cancer treatment. However, testing may give information about your risk of developing another cancer.
Panel testing may also help your family members better understand their risk of breast cancer and in some cases, tailor their cancer screening.
Talking with your health care provider or a genetic counselor can help you decide whether it would be useful to have testing for multiple gene mutations.
Direct-to-consumer genetic testing (also known as 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 and 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.
Although people are currently using direct-to-consumer genetic testing kits, there are some concerns about their use including:
Before acting on any results from a direct-to-consumer genetic test, it’s recommended you have the findings confirmed by genetic testing done in a clinically-approved lab certified by the Clinical Laboratory Improvement Amendments (CLIA) . You can get this testing through your provider or a genetic counselor.
Your provider or a genetic counselor can help you interpret the test results and give you the most up-to-date medical recommendations.
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 and choose a test that fits your situation.
Your provider or a genetic counselor can help you correctly interpret the test results. If the testing was not done in a certified lab, your provider can help you get a clinical genetic test to confirm the results.
If testing finds a gene mutation related to breast cancer, your provider or a genetic counselor can help you make informed decisions about breast cancer screening and any risk-lowering options that may be right for you.
Genetic test results show whether there’s a mutation related to breast cancer in the BRCA1, BRCA2 or other genes that increase risk.
There are 3 possible results:
No matter the results, you may have an emotional response (learn more).
Remember, having a BRCA1/2 or other mutation that increases breast cancer risk doesn’t mean you will get breast cancer.
Some people with a mutation will never get breast cancer. And, people without a mutation are still at risk. Most women who develop breast cancer don't have an inherited gene mutation or a family history of breast cancer .
If you have a BRCA1/2 mutation or other gene mutation that increases breast cancer risk, there are some options to help lower your risk. Discuss these options with your health care provider.
Whether or not you have a gene mutation related to breast cancer, there are things you can do to help lower your risk.
Learn more about a healthy lifestyle and breast cancer risk.
Testing negative for BRCA1/2 (and other gene) mutations (the test shows no mutation) can bring a sense of relief about the risk of breast and ovarian cancer for you and for your family.
Even if a mutation that increases risk is found, the results may bring a sense of relief. You’ll know why you or your family members developed cancer.
For some people, knowing their result, even if it’s positive, is less stressful than not knowing.
Testing positive for a BRCA1/2 mutation (the test shows a mutation) may also help you feel empowered. It gives you special breast cancer screening and risk reduction options.
There are also special breast cancer screening guidelines and risk reduction options for women who certain other high-risk gene mutations.
If you have a BRCA1/2 gene mutation, talk with your health care provider about the pros and cons of these options.
Risk reduction guidelines for women with other high-risk gene mutation are less clear than those for women with BRCA1/2 mutations. As more is learned about these mutations, the better the guidelines can be personalized.
If you have a high-risk mutation, talk with your provider about whether a risk-lowering drug or preventive surgery may be an option for you.
Take the time to make decisions that are right for you. Don’t feel you need to rush.
Learn more about options for women at high risk.
Knowing you have a high-risk gene mutation allows you to personalize your breast cancer screening plan.
There are special screening guidelines for women with a BRCA1, BRCA2, ATM, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, STK11 or TP53 (p53) gene mutation.
For example, women with one of these high-risk gene mutations are screened more often and start screening at a younger age than other women.
Learn more about breast cancer screening for women with BRCA1/2 and other high-risk gene mutations.
Learn about cancer screening for men at higher risk due to a BRCA1/2 mutation or a strong family history.
Learn about breast cancer screening for women at average risk.
Women who have a BRCA1/2 mutation also have a higher risk of ovarian cancer. These women may consider prevention options (such as prophylactic oophorectomy) to reduce their risk of ovarian cancer.
At this time, screening methods to detect early stage ovarian cancer are still under study.
Learn more about risk-lowering options for women at higher risk.
Getting genetic testing lets you share your test results with family members who may benefit from genetic testing. It gives your adult children and other family members the option of getting genetic testing to clarify their own risks of cancer.
Once a BRCA1/2 or other high-risk gene mutation is found, genetic testing is available to family members who are age 18 or older.
Remember, just because one family member has a mutation doesn't mean everyone in the family does.
Family members who have the gene mutation have special breast cancer screening recommendations and may also have risk reduction options.
If you are thinking about having genetic testing, consider the emotional impact of the test results.
Having a BRCA1/2 or other high-risk gene mutation doesn't mean you will definitely get breast cancer.
However, learning you have a mutation may cause worry and anxiety. You may feel overwhelmed when faced with the medical options that can lower risk.
People who test positive for a BRCA1/2 or other high-risk gene mutation are encouraged to share this information with their family members who may be at risk. This can be hard.
If you're a parent, dealing with the possibility your child may have inherited the same gene mutation can be harder than dealing with your own risk.
Getting a negative genetic test result is usually seen as good news. However, sometimes this news can cause awkward feelings around relatives who have had cancer or who test positive for a BRCA1/2 or other high-risk mutation.
Even if you don’t have a mutation, you are still at risk for breast cancer. Remember, most women who get breast cancer don't have a high-risk gene mutation or a family history of breast cancer.
Getting a result of a variant of uncertain significance (VUS) can be confusing and frustrating.
With BRCA1/2 testing, most VUS results turn out to be benign variants (normal results). However, there’s a chance the VUS will turn out to be a mutation that increases breast cancer risk.
With panel testing, you’re more likely to get VUS results because more genes are tested and information on other high-risk gene mutations is limited.
Not knowing whether the VUS helps explain your personal or family history of cancer may add to the stress of an already trying process.
If your genetic test results (or the option of genetic testing) upset you, talk with your genetic counselor or your health care provider.
It may also be helpful to discuss these issues with a mental health provider, such as a therapist or a psychologist.
Connecting with other people who have had BRCA1/2 or panel testing may also help.
Our Breast Care Helpline 1-877 GO KOMEN (1-877-465-6636) can provide information and support.
Bright Pink and FORCE offer online information and chat rooms to connect with others who have had or considered BRCA1/2 or panel testing.
Genetic testing may also have an emotional impact on family members.
Your genetic counselor may suggest you talk to your family about BRCA1/2 or panel testing before you get tested or before you learn your results. That way you can find out if this is information they want to know.
For people with a BRCA1/2 or other high-risk gene mutation, figuring out how to tell relatives can be challenging.
Some family members may value the option of BRCA1/2 or panel testing. Other relatives may be upset, anxious or angry upon hearing the news.
If you have concerns about the best way to share the news with your family members, talk with a genetic counselor. You may prefer to write a letter (rather than calling or talking face-to-face) to your relatives, especially if you have a big family. Your genetic counselor may be able to help you write this letter.
Genetic testing results are confidential health information.
State and federal laws help protect against genetic discrimination.
The Genetic Information Nondiscrimination Act (GINA) prevents health insurers from denying coverage or charging higher premiums when a person's genetic profile puts them at higher risk for certain health conditions.
GINA also protects against genetic discrimination from employers.
To date, there have been no court cases of genetic discrimination regarding BRCA1/2 mutations.
GINA does not prevent life insurance providers or disability insurance providers from denying coverage. However, this has not been a major problem.
Genetic test results are treated the same as other confidential medical information.
Since BRCA1/2 and panel testing are clinical tests, hospitals usually require the results to be placed in your hospital medical record. These results will be kept confidential, similar to other protected health information.
If you have any questions about the confidentiality of your genetic test results, talk with your genetic counselor or your health care provider.
Check with your health insurance provider to find out whether the costs of genetic counseling and testing are covered in your plan.
Most insurance plans cover the cost of BRCA1/2 testing if you meet the criteria for testing.
Coverage of multi-gene panel testing varies from plan to plan.
Genetic counseling is usually covered if you have a personal or family history of cancer.
A genetic counselor can help you determine if your insurance will cover BRCA1/2 or panel testing.
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 provider).
If you have a BRCA1/2 gene mutation, the Affordable Care Act also requires coverage of counseling to help you decide if taking medications to lower the risk of breast cancer is right for you.
If your provider recommends BRCA1/2 testing, but you cannot afford to get tested, there are programs that may be able to help.
If you do not have insurance or your insurance plan doesn't cover this cost or you can't afford the co-payment, you may qualify for these programs.
Most of the major labs performing BRCA1/2 and panel testing have financial assistance programs such as the Myriad Financial Assistance Program.
Some cancer genetic testing programs may also offer financial assistance. The Cancer Resource Foundation offers financial assistance to people who qualify.
Insurance does not cover the cost of direct-to-consumer (at-home) genetic testing.
People with a BRCA1/2 or other high-risk gene mutation may have the chance to join breast (and ovarian) cancer research studies (called clinical trials) on new screening, risk reduction and treatment methods.
BreastCancerTrials.org in collaboration with Susan G. Komen® offers a custom matching service to help you find a clinical trial for people with a BRCA1/2 or other gene mutations.
You can also visit the National Institutes of Health's website to find a clinical trial.
People who have a BRCA1/2 or other high-risk gene mutation may benefit from joining a support group.
There are support groups for people with BRCA1/2 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, Bright Pink and FORCE offer online support for women affected by hereditary breast and/or ovarian cancer.
Sharsheret has online support for Jewish women affected by hereditary breast and/or ovarian cancer.
SUSAN G. KOMEN® SUPPORT RESOURCES
*Please note, the information provided within Komen Perspectives articles is only current as of the date of posting.
Facts for Life: Genetics and Breast Cancer
Questions to Ask Your Doctor: Inherited Genes and Breast Cancer Risk
Facts for Life: Risk Lowering Options for Women at Higher Risk of Breast Cancer