How Is It Used
Standard BRCA1 and BRCA2 tests are used to detect mutations that are known to increase the risk of breast and ovarian cancer development. If a BRCA1 or BRCA2 mutation has been identified in a family member with breast and/or ovarian cancer, then that specific mutation can be tested in other family members to assess their risk. Specific BRCA1 and BRCA2 mutations are associated with some ethnic groups, such as those of Ashkenazi Jewish descent, and can be used to evaluate the risk of individuals in this group.
Only about 0.2% of the U.S. population carries a BRCA1 or BRCA2 mutation. Because of this, genetic testing is not recommended for the general population.
BRCA1 and BRCA2 mutation testing should be considered for individuals with a personal or family history that suggests the presence of a harmful BRCA1/BRCA2 mutation. There are a variety of screening tools to help assess the risk of having a BRCA mutation. Some of the risk factors include:
Screening Guidelines For Women At Average Breast Cancer Risk
MSK doctors recommend the following for women at average risk* of breast cancer:
- Women between the ages of 25 and 40 should have anannual clinical breast examination.
- Women 40 and older should have an annual mammogram in addition to anannual clinical breast examination.
- Ultrasound may be recommended for women with dense breast tissue.
- All women should consider performing a monthly self breast exam beginning at age 20 and become familiar with their breasts so they are better able to notice changes.
Predictive Genetic Tests For Cancer Risk Genes
Cancer is not usually inherited, but some types mainly breast, ovarian, colorectal and prostate cancer can be strongly influenced by genes and can run in families.
We all carry certain genes that are normally protective against cancer. These genes correct any DNA damage that naturally happens when cells divide.
Inheriting faulty versions or “variants” of these genes significantly raises your risk of developing cancer, because the altered genes cannot repair the damaged cells, which can build up and form a tumour.
BRCA1 and BRCA2 are examples of genes that raise your cancer risk if they become altered. Having a variant BRCA gene greatly increases a woman’s chance of developing breast cancer and ovarian cancer. They also increase a man’s chance of developing male breast cancer and prostate cancer.
BRCA genes are not the only cancer risk genes. Researchers recently identified more than 100 new gene variants associated with an increased risk of breast, prostate and ovarian cancer. Individually, these new gene variants only slightly increase the risk of cancer, but a combination could mean a high risk overall.
If you or your partner have a high-risk cancer gene, such as an altered version of BRCA1, it can be passed on to any children you have.
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Talk With Your Health Care Provider Or A Genetic Counselor
The process of genetic testing is complex. Its 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 help you get 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-lowering options that may be right for you.
Learn about genetic test results.
What Are The Benefits Of Genetic Testing
For some women, genetic testing may help you make informed medical and lifestyle decisions while easing the anxiety of not knowing their genetic background. You can also make a decision regarding prevention, with both medications and prophylactic surgery. In addition, many women take part in medical research that, in the long run, may lower their risk of death from breast cancer.
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What Do The Results Of Genetic Testing Mean
Genetic testing can give several possible results: positive, negative, true negative, uninformative negative, variant of uncertain significance, or benign variant.
Positive result. A positive test result means that the laboratory found a genetic variant that is associated with an inherited cancer susceptibility syndrome. A positive result may:
- For a person who has cancer, confirm that the cancer was likely due to an inherited genetic variant and help guide treatment choices
- Indicate an increased risk of developing certain cancer in the future and guide future management to lower that risk
- Provide important information that can help other family members make decisions about their own health care, such as whether to have genetic testing to see if they have also inherited the variant.
Also, people who have a positive test result that indicates that they have an increased risk of developing cancer in the future may be able to take steps to lower their risk of developing cancer or to find cancer earlier, including:
- Being checked at a younger age or more often for signs of cancer
- Reducing their cancer risk by taking medications or having surgery to remove at-risk tissue.
- Changing personal behaviors to reduce the risk of certain cancers
- Getting help to guide decisions about fertility and pregnancy
Genetic Testing And Privacy
Genetic testing isnt anonymous. Your name appears on the test order and the results, which then become part of your medical record. The testing company is not allowed to reveal your results to anyone except your doctor or genetic counselor. Although medical records are confidential, many people worry they may be discriminated against by employers or health insurers if they get a positive genetic test result one that suggests an increased cancer risk.
If you are a U.S. citizen, the 2018 Genetic Information Nondiscrimination Act protects you from being discriminated against by health insurers and potential employers because of your genetic information. But GINA does not apply to small companies with fewer than 15 employees or to the U.S. military. GINA also does not apply to life insurance, disability insurance, or long-term care insurance, so its recommended that people secure these types of insurance plans before getting a genetic test.
It makes sense for residents of other countries to find out what their legal rights are. For example, many European nations have passed nondiscrimination laws like GINA.
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What If I Just Dont Want To Know
Like Khloe, many women worry that a positive test result will feel like a death sentence, and create unwanted anxiety about the future. Freivogel suggests that you should think about whether a positive result would change what you are currently doing to protect your health, as it did for Applegate. If I had a patient that said, Ive already had my ovaries removed for some other reason, I would not consider a preventative mastectomy, even if I had a BRCA mutation, and my family history puts me at enough risk that Im already getting screened very carefully, Im getting mammograms.’ Would that person do anything differently if she got a BRCA result? Maybe not.
But if there are preventative steps that you’re not already taking, knowing your BRCA status could literally save your life. And if you’re thinking about getting pregnant in the future, the test could potentially help protect your baby too. Dr. Klugman explains that a procedure performed during an IVF cycle can help doctors identify the embryos that don’t carry the treacherous mutation.
Like Freivogel, Dr. Klugman also recommends talking to a health care providerlike a genetic counselor or an oncologistto help you understand the pros and risks of analyzing your DNA. But ultimately, she points out, “any genetic testing is up to the patient.”
Breast Cancer Screening For Women With Other High
There are special screening recommendations for women with some other inherited gene mutations linked to breast cancer, including:
- ATM
- PTEN
- TP53
Data on these gene mutations and their related breast cancer risks are still emerging and will likely change over time as more is learned.
A womans personal risk factors and family history of cancer also impact breast cancer screening recommendations.
Learn more about the cancer risks related to these inherited gene mutations.
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Brca1/2 Genetic Testing Or Expanded Panel Testing
In most cases, the first person tested is the family member with breast 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 thats the case, they should consider targeted gene testing for the specific gene mutation or expanded panel testing that includes the mutation.
Risk Assessment And Preventive Strategies
Genetic testing is a component of risk assessment used to prevent breast cancer and to guide treatment decisions for newly diagnosed patients. A test result can be negative , positive , or a variant of uncertain significance . The latter means that a genetic change was identified, but it is unknown whether this variant may alter the individuals risk of cancer.
When BRCA testing is used for risk assessment in asymptomatic individuals, those who test positive for a risk-increasing mutation may consider several preventive strategies. The most common strategy is increased surveillance, which includes breast MRI, annual mammography and semiannual clinical breast exam. Other risk-reducing measures include chemoprevention with selective estrogen receptor modulators or aromatase inhibitors and prophylactic breast and/or ovarian surgery. Preventive surgical interventions can reduce breast cancer incidence more effectively than chemoprevention or surveillance. Surgical interventions include bilateral total mastectomy, which reduces the risk of breast cancer in high-risk women by 90%. Bilateral oophorectomy may also reduce the risk of breast cancer in BRCA2 carriers by 72%. Breast cancers in BRCA2 carriers are more likely to be estrogen receptor positive and the surgery eliminates the bodys main source of estrogen.
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Should You Be Tested For The Breast Cancer Gene
Most of the more than 232,000 cases of breast cancer that will be diagnosed in the United States this year are not due to a faulty gene passed down through families. As with most other cancers, they happen because of genetic mutations that happen as we age.
But about 15% of women with breast cancer have at least one relative who has also had the disease, and 5% to 10% have specific inherited mutations in one of two genes that have been linked to breast cancer, known as BRCA1 and BRCA2.
These mutations are serious. Women with a BRCA1 or BRCA2 mutation face a dramatically increased lifetime risk of breast cancer — 55% to 85%, compared with about 13% for women with no inherited genetic risk. Ovarian cancer risk is higher, too — about 39% of women with BRCA1 and 11% to 17% of women with BRCA2 will get ovarian cancer. BRCA-linked breast cancers also tend to develop at a younger age than other breast cancers.
Women diagnosed with these mutations sometimes choose to have preventive surgery to remove their breasts and/or ovaries before they can get cancer.
Angelina Jolie and Christina Applegate both underwent double mastectomies after testing positive for a BRCA mutation. Jolie lost her mother to ovarian cancer, and Applegateâs mom developed both breast and ovarian cancer.
But you may want to consider testing if your family tree includes these signs:
What Is A Positive Result
When the radiologist reports the mammogram results, he/she might notice something and request a call-back or a follow-up. A screening radiologist has to be quite careful how his impressions are expressed and may be interpreted by the patient.
The term positive result especially can cause a great deal of unnecessary anxiety for the patient.
If the initial mammogram radiologist noticed something that needs further clarification, the radiologist will usually request typical call-back procedures such as magnification, ultrasound, and maybe a biopsy.
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If Youve Been Diagnosed With Breast Cancer And The Tumor Was Tested For Gene Mutations
Sometimes, breast cancer tissue is checked for tumor gene mutations. Every cell in a breast tumor has genes. These genes contain the blueprints for the cancer.
These gene mutations are in the breast cancer, not in the person. However, sometimes tumor testing finds a BRCA1/2 or other gene mutation in the tumor that could also be an inherited gene mutation. In these cases, genetic testing for the person may be done .
What Are Genomic Tests
Genomic tests analyze a sample of a cancer tumor to see how active certain genes are. The activity level of these genes affects the behavior of the cancer, including how likely it is to grow and spread. Genomic tests are used to help make decisions about whether more treatments after surgery would be beneficial.
While their names sound similar, genomic testing and genetic testing are very different.
Genetic testing is done on a sample of your blood, saliva, or other tissue and can tell if you have an abnormal change in a gene that is linked to a higher risk of breast cancer. See the Genetic Testing pages for more information.
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Brca Gene Mutations And Breast Cancer Treatment
If someone with a BRCA mutation does develop breast cancer, the treatments used may be different than for people who do not carry the gene mutation.
People with BRCA1 mutations are more likely to develop triple negative breast cancer. Triple negative breast cancer does not respond to hormone therapy or certain drugs. However, chemotherapy may be more effective at treating triple negative cases than it is against other types of cancer.
Breast cancer patients with BRCA1 or BRCA2 mutations are also more likely to later develop a second cancer, either in the same or the opposite breast. Because of this, they may opt for a double mastectomy instead of a single or partial mastectomy . Removing the healthy breast along with the cancerous one is essentially another form of a preventative mastectomy.
Though research is still ongoing, some findings indicate that certain types of cancer treatment drugs might be more effective than others in patients with BRCA gene mutations.
As always, your doctor can help determine which breast cancer treatments are right for you.
Whether A Woman Should Be Screened For Breast Cancer And The Screening Test To Use Depends On Certain Factors
Women with risk factors for breast cancer, such as certain changes in the BRCA1 or BRCA2 gene or certain genetic syndromes may be screened at a younger age and more often.
Women who have had radiation treatment to the chest, especially at a young age, may start routine breast cancer screening at an earlier age. The benefits and risks of mammograms and MRIs for these women have not been studied.
Breast cancer screening has not been shown to benefit the following women:
- Elderly women who, if diagnosed with breast cancer through screening, will usually die of other causes. Screening mammograms for those aged 66 to 79 years may find cancer in a very small percentage of women, but most of these cancers are low risk.
- In women with an average risk of developing breast cancer, screening mammography before age 40 has not shown any benefit.
- In women who are not expected to live for a long time and have other diseases or conditions, finding and treating early stage breast cancer may reduce their quality of life without helping them live longer.
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What Might You Learn From Genetic Testing
The obvious benefit of genetic testing is the chance to better understand of your risk for a certain disease. It can help ease uncertainty. Testing is not perfect, but it can often help you make decisions about your health.
For families at risk, a negative result on a genetic test for a certain kind of cancer may help ease anxiety. In the same way, a positive result can help you make important decisions about your future, including things you can do that might help lower your risk. A positive result may also lead your health care provider to have you:
- Start cancer screening tests earlier
- Get screened for that type of cancer more often
- Get screening tests that are used only for people known to be at increased cancer risk
- Watch yourself closely for signs or symptoms of that kind of cancer
- Learn about options to help reduce the risk of certain types of cancer, such as drugs or surgery
If you do develop cancer, finding it early often means that treatment is more likely to be helpful.
The Purpose Of Genetic Testing
- Whenever you fall ill, find out if you have a hereditary illness that runs in your history.
- To find out if a current or future pregnancy is likely to be affected by a genetic problem.
- If you or your child exhibits signs, you should see a doctor rule out a hereditary illness.
- To comprehend and direct your cancer prevention or treatment strategy.
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What Does A Negative Test Result Mean
If your test result for the BRCA1 and BRCA2 mutations is negative, the genetic counselor will tell you what this means. Your family history will help the genetic counselor understand a negative test result.
A negative test result does not mean you will not get cancer. It may mean you have the same risk of getting cancer as people who do not have this mutation.
Be sure to discuss all results of your tests, even negative results, with your genetic counselor.