Genetic testing gives people the chance to learn if their 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.
Only 5-10 percent of breast cancers in the U.S. are linked to an inherited gene mutation [4,28]. 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. 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.
Remember, most breast cancers are not due to a BRCA1/2 or other inherited gene mutation linked to breast cancer.
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.
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 cannot tell you whether or not you have a BRCA1/2 mutation or if you will get breast cancer. Rather, 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 a BRCA1/2 mutation and may be useful when talking with a provider or a genetic counselor about this risk.
The Office of the Surgeon General created an online tool called “My Family Health Portrait” to help you create a chart of your family’s health history.
This chart may be useful when you talk with your provider or genetic counselor about your family history of breast cancer and other health conditions.
It is strongly recommended that 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 mutation.
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.
Although testing for a BRCA1/2 gene mutation just requires a blood or saliva test, there are potential physical, emotional and financial impacts of knowing your genetic status.
So, testing for a BRCA1/2 mutation is recommended only 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.
In most cases, the person with cancer is tested first.
If no mutation is found, the cancer was probably not due to a BRCA1/2 mutation and there is no need to test other family members.
If a BRCA1/2 mutation is found, other family members can be tested for the specific mutation.
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 BRCA1/2 mutation, there is a 50 percent chance you will also have the same 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 are not 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.
About half of all breast cancers due to an inherited gene mutation are caused by a BRCA1 or BRCA2 gene mutation .
Besides BRCA1/2, there are other gene mutations that may help explain family histories of breast cancer. These other mutations are rare and do not increase risk as much as BRCA1/2 mutations do.
In the past, breast cancer genetic testing only checked for mutations in BRCA1/2 genes.
Now, genetic testing can be done for several other gene mutations (in addition to BRCA1/2) that increase the risk of breast cancer. This type of genetic test is called panel or multi-gene testing.
Panel tests look at 20-40 genes, depending on the specific test.
Researchers are studying how information from inherited gene mutations can help health care providers tailor 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 physician or nurse practitioner.
Some genes have solid risk data and special breast cancer screening recommendations. Others have only limited data at this time.
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 are a breast cancer survivor and tested negative for BRCA1/2 mutations in the past (before multiple gene testing was common), you may want to consider additional panel testing.
This information will probably not impact your breast cancer treatment though.
Having BRCA1/2 or panel testing may give information about your risk of developing another cancer. It may also help your family members better understand their risk of breast cancer and in some cases, tailor their 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.
You may have seen ads for at-home genetic testing kits. These kits are not recommended for assessing breast cancer risk.
The U.S. Food and Drug Administration, U.S. Federal Trade Commission and Centers for Disease Control and Prevention all caution against the use of at-home testing kits.
The results of any genetic test should be interpreted by a trained health care provider or genetic counselor [265-267].
Learn More | Current Article
Results from a BRCA1/2 test show whether there is a mutation related to cancer in the BRCA1 or BRCA2 gene.
There are three possible results:
Having a BRCA1/2 mutation does not 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 do not have a BRCA1/2 mutation or a family history of breast cancer .
If you have a BRCA1/2 mutation, there are some options to help lower your risk of breast cancer. Discuss these options with your health care provider.
Whether or not you have a BRCA1/2 mutation, there are things you can do that may lower your breast cancer risk.
Learn more about a healthy lifestyle and breast cancer risk.
Testing negative for a BRCA1/2 mutation (the test shows no BRCA1/2 mutation) can bring a sense of relief about the risk of breast and ovarian cancer for you and for your family.
Even if a BRCA1/2 mutation is found, your test results may bring a sense of relief. You will know why you or your family members developed cancer.
Testing positive for a BRCA1/2 mutation (the test shows a BRCA1/2 mutation) may also help you feel empowered. It gives you special breast cancer screening and risk reduction options.
For some people, knowing their result, even if it is positive, is less stressful than not knowing.
If you have a BRCA1/2 gene mutation, talk with your health care provider about the pros and cons of these options.
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 BRCA1/2 mutation allows you to personalize your breast cancer screening plan. There are special screening guidelines for people with a BRCA1/2 mutation.
For example, women with a BRCA1/2 mutation are screened more often and start screening at a younger age than other women.
Screening with breast MRI in addition to mammography is recommended for women who have a BRCA1/2 mutation. For these women, mammography plus breast MRI is better than mammography alone at finding breast cancer .
Learn more about breast cancer screening for women with a BRCA1/2 mutation and other women at higher risk.
Learn about breast 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 mutation is found, BRCA1/2 testing is available to family members who are age 18 or older.
Remember, just because one family member has a BRCA1/2 mutation does not mean everyone in the family has the mutation.
Family members who have the gene mutation have special breast cancer screening and risk reduction options.
If you are thinking about having BRCA1/2 testing, consider the emotional impact of the test results.
Having a BRCA1/2 mutation does not mean you will definitely get breast cancer.
However, learning you have a BRCA1/2 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 mutation are encouraged to share this information with their family members who may be at risk. This can be hard.
If you are 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 BRCA1/2 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 mutation.
Even if you don’t have a BRCA1/2 mutation, you are still at risk for breast cancer. Remember, most women who get breast cancer do not have a BRCA1/2 mutation or a family history of breast cancer.
Getting a result of a variant of uncertain significance (VUS) can be confusing and frustrating.
Even though most VUS results turn out to be benign variants (normal results), there is a chance the VUS will turn out to be a mutation that increases breast cancer risk.
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 BRCA1/2 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 testing may also help.
Our breast care helpline 1-877 GO KOMEN (1-877-465-6636) can provide information and support. We also offer a forum for women at higher risk within our Message Boards.
Bright Pink and FORCE offer online information and chat rooms to connect with others who have had or considered BRCA1/2 testing.
BRCA1/2 testing may also have an emotional impact on family members.
Your genetic counselor may suggest you talk to your family about BRCA1/2 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 gene mutation, figuring out how to tell relatives about it can be challenging.
Some family members may value the option of BRCA1/2 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.
GINA does not prevent life insurance providers or disability insurance providers from denying coverage. However, this has not been a major problem.
To date, there have been no court cases of genetic discrimination regarding BRCA1/2 mutations.
BRCA1/2 test results are treated the same as other confidential medical information.
Since BRCA1/2 testing is a clinical test, 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 plans cover the cost of BRCA1/2 testing if you meet the criteria for testing.
Coverage of multigene 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 does not cover this cost or you cannot 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.
People with a BRCA1/2 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 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 a local or online support group.
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.
Komen Support Resources
*Please note, the information provided within Komen Perspectives articles is only current as of the date of posting.
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Facts for Life: Risk Lowering Options for Women at Higher Risk of Breast Cancer