Genetic testing gives people the chance to learn if their family history of breast cancer is due to an inherited gene mutation. Five to 10 percent of breast cancers in the U.S. are linked to an inherited genetic mutation [4,26].
Mutations are changes in the genetic code of a gene that affect its function. Inherited gene mutations can be passed on from a parent to a child. Some inherited gene mutations increase breast cancer risk. BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are the best-known genes linked to breast cancer.
People who have a BRCA1 or BRCA2 mutation have a greatly increased risk of breast cancer and (for women) ovarian cancer. However, there are some options for lowering the risk of breast cancer for people at high risk.
Learn more about BRCA1 and BRCA2 mutations and breast cancer risk.
Who should consider testing?
Although genetic testing for BRCA1 and BRCA2 is widely advertised, testing is only recommended for certain people, including those with [89,244,527]:
- A personal history of breast cancer at age 50 or younger
- A personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, progesterone receptor-negative and HER2/neu receptor-negative)
- A personal or family history of male breast cancer
- A personal or family history of bilateral breast cancer (cancer in both breasts)
- A personal history of ovarian cancer
- A parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin diagnosed with breast cancer at age 45 or younger
- A mother, sister, daughter, grandmother, granddaughter, aunt, niece or first cousin diagnosed with ovarian cancer
- A family history of both breast and ovarian cancers on the same side of the family (either mother's or father's side of the family)
- Ashkenazi Jewish heritage and a family history of breast or ovarian cancer
There is only a very small chance that your family carries a BRCA1/2 mutation if:
- You or an immediate family member is the only person in your family with breast cancer
- The breast cancers in your family all occurred at older ages
In most cases, genetic testing is not recommended when there is a low chance of finding a mutation. Remember that most breast cancers are not due to a BRCA1/2 mutation.
Weighing the risks and benefits of BRCA1/2 testing
Although BRCA1/2 testing is only a blood test, the risks and benefits should be considered before testing. There are potential physical, emotional and financial impacts of knowing your genetic status. Thus, testing for the BRCA1/2 mutation is recommended only for people who fall into one of the categories listed above.
A health care provider or genetic counselor can talk with you about genetic testing issues (more on these issues). 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 Office of the Surgeon General and the National Human Genome Research Institute (part of the National Institutes of Health) 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 in discussions with your provider or genetic counselor about your family history of breast cancer and/or other health conditions.
Testing for BRCA1/2 mutations
In most cases, testing is first done on the person with breast or ovarian cancer. 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.
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 for you to have BRCA1/2 testing.
Testing for other gene mutations
Of the genes linked with breast cancer, BRCA1 and BRCA2 mutations are the most well-understood. When a person is found to have a mutation in one of these genes, there are special recommendations for breast cancer screening, risk-lowering options and care. So, genetic testing for BRCA1 and BRCA2 mutations can affect a person’s medical care.
Inherited gene mutations in some other genes such as p53, CHEK2 and ATM, also increase breast cancer risk. Testing for some of these mutations exists. However, these gene mutations are rare and little is known about how to tailor medical care to people with these mutations. So, although testing for multiple gene mutations is becoming more available, health care providers still do not know how to use much of the information from these tests.
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 for you to have testing for one of the other inherited gene mutations.
At-home genetic testing
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 [522-524].
BRCA1/2 genetic test results
Results from a BRCA1/2 test show whether there is a mutation related to cancer in either the BRCA1 or BRCA2 gene. There are three possible results:
- No mutation (negative or normal)
- A mutation linked to cancer (positive or carrier)
- A mutation not currently known to increase breast cancer risk (called a variant of uncertain significance)
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 .
If you have a BRCA1/2 mutation, there are some options to help lower your risk of breast cancer. You should discuss these options with your health care provider.
No matter whether or not you have a gene mutation, there are things you can do that may lower your breast cancer risk.
Learn more about a healthy lifestyle and breast cancer risk.
Benefits of BRCA1/2 genetic testing
For some people, learning their genetic test results (even if a BRCA1/2 mutation is found) brings a sense of relief and empowerment. Some may even find that learning they have a BRCA1/2 mutation is less stressful than wondering whether they have one. BRCA1/2 carriers are often hopeful that they will benefit from the risk-lowering options available today.
Testing negative for a BRCA1/2 mutation can bring a sense of relief about the risk of breast and ovarian cancer for you and for your children.
Options for BRCA1/2 carriers to lower their risk of breast cancer
Learn more about options for women at high risk.
Breast cancer screening for BRCA1/2 carriers
Knowing you have a BRCA1/2 mutation allows you to make a personalized breast cancer screening plan, which may include being screened more often and/or starting screening at a younger age. Screening with breast MRI in combination with mammography is now recommended for BRCA1/2 carriers. Mammography plus breast MRI is better than mammography alone at finding breast cancer in women with BRCA1/2 mutations .
Screening and risk-lowering options for ovarian cancer
No matter the test result, it is important to follow breast cancer screening guidelines. There are special screening guidelines for people with a BRCA1/2 mutation as well as for those without a BRCA1/2 mutation but with other factors that greatly increase risk.
Women who have a BRCA1 or BRCA2 mutation also have a higher risk of ovarian cancer. These women may consider prevention options (such as prophylactic oophorectomy) to reduce the risk of ovarian cancer. At this time, screening methods to detect early stage ovarian cancer are still under study.
Learn more about breast cancer screening for people at higher risk.
Learn more about risk-lowering options for women at higher risk.
Benefits for family members
Getting genetic testing lets you share your test results with family members, who may benefit from having the option of genetic testing. Just because one family member has a BRCA1/2 mutation does not mean that everyone in the family has the mutation.
Risks of BRCA1/2 genetic testing
If you are thinking about having BRCA1/2 testing, consider the emotional impact of the test results. For some people, knowing they have a BRCA1/2 mutation causes worry and anxiety even though they may never get breast cancer. Some people may feel overwhelmed when faced with the medical options that can lower their 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 a difficult task. A parent who tests positive may find dealing with the possibility that his/her child is at risk harder than dealing with his/her own risk.
Getting a negative BRCA1/2 test result is usually seen as good news. However, this news can also cause awkward feelings around relatives who have had cancer or who test positive for a BRCA1/2 mutation. And for some, knowing they do not have a mutation may give a false sense of security of not being at risk of breast cancer.
Getting a result of a variant of uncertain significance (and not knowing whether the mutation increases risk) can be confusing or frustrating and may add to the stress of an already trying process.
If your BRCA1/2 test results (or even the option of genetic testing) upset you, talk to 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 Helpline1-877 GO KOMEN (1-877-465-6636) can also provide information and support for BRCA1/2 carriers and those considering genetic testing. We also offer a forum for women at higher risk within the Message Boards. The organization Bright Pink offers on-line chat rooms to connect with others who have had or considered BRCA1/2 testing.
Emotional risks for family members
BRCA1/2 testing may also have an emotional impact on family members. For people who have a positive test result, figuring out how to tell relatives about the BRCA1/2 mutation can be challenging. Some family members may welcome hearing that they have the option of BRCA1/2 testing, but other relatives may be upset, anxious or angry upon hearing the news. If you have concerns, talk to a genetic counselor. He/she can provide suggestions for how best to share the news with other family members.
Other risks of genetic testing
Genetic testing should be private. There are state and federal laws to 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. However, GINA does not prevent life insurance providers or disability insurance providers from denying coverage.
There have been no court cases of genetic discrimination regarding the BRCA1/2 gene mutations since these tests have been used.
BRCA1/2 test results are considered sensitive information and are treated similarly to other confidential medical information. Since BRCA1/2 testing is a clinical test, many hospitals require the results to be placed in your hospital medical record. If you have any questions about the confidentiality of your genetic test results, talk to your genetic counselor or your health care provider.
Genetic testing costs
Check with your health insurance provider to find out whether the costs of genetic counseling and testing are covered in your plan. Many plans cover these costs when your health care provider recommends this testing.
If you have a new insurance plan that began on or after August 1, 2012, the Affordable Care Act (health care reform) requires coverage of these costs (when 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. The Myriad Financial Assistance Program (sponsored by the company that makes the BRCAnalysis test) and the Cancer Resource Foundation offer financial assistance to people who qualify.
Finding clinical trials for BRCA1/2 carriers
People who have a BRCA1/2 mutation may have the chance to join breast (and ovarian) cancer research studies (called clinical trials) on new screening, prevention and treatment methods.
BreastCancerTrials.org in collaboration with Susan G. Komen® offers a custom matching service that can help you find a clinical trial recruiting people with a BRCA or other gene mutations. (Learn more about this program.) You can also visit the National Institutes of Health's website to find a clinical trial.
Support for BRCA1 and BRCA2 carriers
Some support groups are tailored for BRCA1/2 carriers and those with BRCA-related cancers. Our Support section offers a list of resources to help find a local or on-line support group. For example, FORCE and Sharsheret are organizations that have on-line support for 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. Therefore, some information may be out of date at this time.