Understanding BRCA Testing 101″ takes you through the essentials of BRCA genetic testing, a vital tool in identifying mutations that significantly increase the risk of breast, ovarian, pancreatic, melanoma, and prostate cancers. This guide explores why BRCA1 and BRCA2 genes are crucial for DNA repair, highlighting how their malfunctioning can lead to cancer. It's packed with information on who should consider testing, the process of testing, and the impact of test results on treatment and preventive measures. By demystifying the BRCA testing process, it underscores the importance of working with healthcare professionals to make informed decisions that could potentially be life-saving. Have you ever wondered what people mean when they talk about “breast cancer genes”? If so, you're not alone. In this article, we're diving deep into the world of BRCA genetic testing to help you understand its significance and the impact it may have on your health decisions.
Understanding BRCA Testing 101
If you've heard people talking about “breast cancer genes,” they're likely referring to BRCA. But here's an interesting twist: everyone has BRCA (BReast CAncer) genes, and they play a protective role when they work correctly.
“We all have two copies of the BRCA1 and BRCA2 genes, and we want them to be functioning properly,” says Chrissy Spears, M.S., a licensed genetic counselor at the Ohio State University Comprehensive Cancer Center and a member of HealthyWomen's Women's Health Advisory Council. It's not the genes themselves but certain mutations in BRCA1, BRCA2, and other genes that can increase the risk of developing breast cancer and other cancers.
Normal BRCA1 and BRCA2 genes produce proteins that help repair damaged DNA. Because of their role in DNA repair, they're sometimes called “tumor suppressor genes.” When these genes have harmful mutations, they fail to repair DNA effectively, leading to an increased likelihood of rapid cell division and cancer development.
This is why people with harmful BRCA1 or BRCA2 mutations have a greater risk of developing certain cancers, including breast, ovarian, and prostate cancers.
According to the National Cancer Institute:
- Up to 72% of women with a harmful BRCA1 variant and up to 69% of women with a harmful BRCA2 variant will develop breast cancer by 70-80 years of age, compared to 13% of women in general.
- Up to 44% of women with a harmful BRCA1 variant and up to 17% of women with a harmful BRCA2 variant will develop ovarian cancer by 70–80 years of age, compared to just 1.2% of women in general.
The good news? There are tests to determine if you have a BRCA mutation. Understanding BRCA testing can help you decide with your healthcare provider (HCP) if you should get tested. Getting a timely BRCA test at or immediately following a cancer diagnosis could be a life-changing decision.
What is BRCA Testing?
BRCA genetic testing looks for mutations in your BRCA1 or BRCA2 genes that significantly increase your risk of:
- Breast cancer (in women and men)
- Ovarian cancer
- Pancreatic cancer
- Melanoma
- Prostate cancer
Genetic testing can also look for mutations in genes other than BRCA1 and BRCA2. There are more than 1,000 known BRCA mutations. Testing can be done as a blood or saliva test with no difference in accuracy. Talk to your doctor or genetic counselor to have them order an FDA-approved test. Once a sample has been collected, you can expect to have results in about two weeks.
Who Should Get BRCA Testing?
BRCA testing is recommended for people with specific risk factors, including:
- A personal history of breast cancer (especially if diagnosed before age 50)
- A personal history of both breast and ovarian cancer
- A personal or family history of multiple cancer diagnoses
- A personal or family history of ovarian, pancreatic, or high-risk prostate cancer
- At least one family member diagnosed with breast cancer before age 50
- Breast cancer in a male relative
- One or more family members diagnosed with a BRCA mutation
- Ashkenazi Jewish ancestry, as 1 in 40 Ashkenazi Jewish women has a BRCA mutation
- Certain other ancestries
If you have one or more of these risk factors, consider talking to your HCP about BRCA testing. They may refer you to a genetic counselor, someone specifically trained to help people decide if genetic testing is right for them.
Some BRCA mutations are hereditary, meaning they can be passed from a parent to a child. People are at higher risk if they inherited a BRCA mutation. If you have a family history of certain cancers, such as breast, ovarian, and prostate cancers, genetic testing can help you understand your risk and make informed healthcare decisions.
“We come from a ‘knowledge is power' perspective,” Spears said. “If we know there's a mutation, there are things we can do about it.”
Spears also suggests that women talk to the men in their lives about BRCA testing because they can have BRCA mutations as well.
Should You Have BRCA Testing After a Breast Cancer Diagnosis?
The decision to get BRCA testing after a breast cancer diagnosis should be made on an individual basis with your care team. Genetic testing can be helpful for women with breast cancer who:
- Were diagnosed at a younger age
- Have triple-negative breast cancer
- Have been diagnosed with a second breast cancer (not a recurrence of the first cancer)
- Are of Ashkenazi Jewish descent
- Have a family history of breast cancer (especially at a younger age or in men), ovarian, pancreatic, or prostate cancer
Recently, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) released updated recommendations for genetic mutation testing in patients with breast cancer. They recommend BRCA1 and BRCA2 mutation testing for all newly diagnosed patients with breast cancer who are 65 or younger and certain patients older than 65.
Does BRCA Status Affect Treatment Decisions?
Since BRCA mutations can affect how breast cancer is treated, discovering these mutations as soon as possible may help you make treatment decisions. Genetic testing may give your HCP insight into which targeted therapies your cancer may respond to. Targeted drug therapy is a cancer treatment with drugs made to “target” cancer cells without affecting normal, healthy cells.
Genetic testing results may also encourage you to take preventive measures, such as more frequent screenings if you find you are at higher risk for certain cancers.
Is BRCA Testing Covered by Insurance?
Many health insurance plans will cover the cost of genetic testing when recommended by a physician, according to the American Society of Clinical Oncology. However, coverage ultimately depends on your insurance company, so it's a good idea to verify if BRCA testing is covered before you move forward.
Some organizations offer information and resources for those who can't afford preventive care. For example, FORCE, Facing Hereditary Cancer Empowered, is an advocacy organization that provides information about genetic testing and directs people to additional resources about insurance coverage for genetic testing.
Are At-Home Genetic Testing Kits Effective?
Although at-home genetic testing kits exist, you should talk with your HCP about BRCA testing. At-home tests are not comprehensive, meaning they don't test for all BRCA mutations, and their results may be confusing without an expert to guide you through them and advise on the next steps.
Resources
There are several resources you can explore to learn more about BRCA testing and genetic testing in general:
Visit beBRCAware.com to learn how genetic testing can provide important information about cancer risk and help you make treatment decisions after a diagnosis.
This educational resource was created with support from AstraZeneca and beBRCAware.com.
By breaking down this information and understanding your genetic makeup, you gain the power to make informed decisions about your health. If you recognize any of the risk factors mentioned, consider discussing BRCA testing with your healthcare provider. Knowledge is indeed power when it comes to your health and well-being.
Source: https://www.healthywomen.org/condition/brca-test