If you’ve heard people talk about “breast cancer genes,” they probably meant BRCA – but they were only partly right. Everybody has BRCA (breast cancer) genes. And they protect you when they work properly.
“We all have two copies of the BRCA1 and 2 “Genes are important and we want them to work properly,” said Chrissy Spears, MS, a licensed genetic counselor at The Ohio State University Comprehensive Cancer Center and a member of HealthyWomen’s Women’s Health Advisory Council. They are not the genes themselves, but certain mutations (changes) in BRCA1, BRCA2 and other genes that may increase a person’s risk of developing breast cancer and other cancers.
Normal BRCA1 and BRCA2 Genes make proteins that help repair damaged DNA. They are sometimes called “tumor suppressor genes” because they prevent cancer from occurring when they are working as they should. BRCA1 either BRCA2 The mutations maintain the BRCA By preventing the protein from repairing DNA, cells are more likely to divide and grow rapidly, which can lead to cancer.
This is why people with injuries BRCA1 either BRCA2 the mutations are in increased risk of developing certain types of cancersincluding breast, ovarian and prostate cancer.
Read: How do genes affect health? >>
According to the National Cancer Institute:
- Up to 72% of women with a harmful disease BRCA1 variant and up to 69% of women with a harmful BRCA2 variant will develop breast cancer between the ages of 70 and 80, compared to 13% of women overall.
- Up to 44% of women with a harmful disease BRCA1 variant and up to 17% of women with a harmful effect BRCA2 The variant will develop ovarian cancer between the ages of 70 and 80, compared to just 1.2% of women overall.
The good news? There are tests that can tell you if you have a BRCA mutation. Comprehension BRCA The tests can help you decide with your healthcare provider (HCP) if you should get tested. Arrive on time BRCA Getting tested at the time of a cancer diagnosis or immediately after could be a life-changing decision.
What is BRCA evidence?
BRCA Genetic testing looks for mutations in your BRCA1 either BRCA2 Genes that significantly increase a person’s risk of:
- Breast cancer (in women and men)
- Ovarian cancer
- Pancreatic cancer
- Melanoma
- prostate cancer
Genetic testing can also look for mutations in other genes besides BRCA1 and BRCA2. And there are more than 1,000 known BRCA mutations out there. The test can be performed as a blood or saliva test with no difference in accuracy. Talk to your doctor or genetic counselor about ordering an FDA-approved test. Once a sample has been collected, you can expect to get results in about two weeks.
Who should get it? BRCA evidence?
BRCA Testing is recommended for people with certain risk factors, including:
- Personal history of breast cancer (especially if diagnosed before age 50)
- A personal story of breast and ovarian cancer.
- A staff either Family history of multiple cancer diagnoses.
- a staff either Family history of high-risk ovarian, pancreatic, or prostate cancer
- At least one family member who has been diagnosed with breast cancer, especially if diagnosed before age 50.
- Breast cancer in a male relative
- One or more family members who have already been diagnosed with a BRCA mutation
- Ashkenazi Jewish descent, from 1 in 40 Ashkenazi Jewish women have a BRCA mutation
- Certain other ancestries
If you have one or more of these risk factors, consider talking to your doctor about BRCA testing. You may be referred to a genetic counselor, a person who is specifically trained to help people decide whether genetic testing is right for them.
Some BRCA mutations are hereditary. This means that they can be passed from parents to children. People have a higher risk of developing certain types of cancer if they inherit a BRCA Mutation. If you have a family history of certain types of cancer, such as breast, ovarian, and prostate cancer, genetic testing can help you understand your risk of developing certain types of cancer and help you and your healthcare professional make informed decisions. about your medical care.
“We’re coming from a perspective where knowledge is power,” Spears said. “If we know there’s a mutation, there are things we can do about it.”
Read: How do genes affect health? >>
Spears suggests that women also talk to the men in their lives about BRCA tests because they may have BRCA mutations as well.
If you have BRCA Testing after a breast cancer diagnosis?
While the decision to obtain BRCA Testing after a breast cancer diagnosis should be done individually by the woman and her care team, genetic testing It can be useful for women with breast cancer who:
- They were diagnosed with breast cancer at an earlier age.
- You have triple negative breast cancer
- You have been diagnosed with a second breast cancer (not a recurrence of the first cancer)
- They are of Ashkenazi Jewish descent.
- Have a family history of breast cancer (especially at a younger age or in men), ovarian cancer, pancreatic cancer, or prostate cancer.
Recently, the American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) published updated information recommendations for genetic mutation testing in patients with breast cancer. Among other criteria, the guidelines recommend BRCA1 and BRCA2 mutation tests for all newly diagnosed breast cancer patients who are 65 years of age or younger and certain patients 65 years of age or older.
Does BRCA Does status affect treatment decisions?
From BRCA Mutations can affect how breast cancer is treated. Discovering these mutations as soon as possible can help you make treatment decisions. Genetic testing can give your doctor information about targeted therapies your cancer may respond to. (Targeted drug therapy It is a cancer treatment using drugs designed to “attack” cancer cells without affecting normal, healthy cells.)
Genetic test results may also encourage you to take other preventive measures, such as getting screened more frequently 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 doctor, depending on the American Society of Clinical OncologyBut ultimately coverage depends on your insurance company, so it’s a good idea to check if BRCA The tests are covered before continuing.
Some organizations offer information and resources for those who cannot 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 home genetic testing kits effective?
Although home genetic testing kits are available, talk to your doctor about BRCA tests. Home tests are not comprehensive (meaning they do not test for all BRCA mutations), and your results can be confusing without an expert to guide you through them and help you determine what to do next.
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 the support of AstraZeneca and beBRCAware.com.
Resources
Susan G. Komen Family Health History Tool
UCSF BRCA Research Study Center
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