Understanding your genetic risk for cancer can be life-changing. BRCA gene testing can provide answers about your likelihood of developing breast or ovarian cancer so you can take proactive steps for your health. If you have a family history of breast cancer or other hereditary risk factors for cancer, you may be eligible for testing.
What are BRCA Genes?
Everyone, regardless of sex, has BRCA genes as a normal part of their DNA. BRCA stands for “BReast CAncer” genes, and there are two types: BRCA1 and BRCA2. These genes play a crucial role in repairing damaged DNA and regulating cell growth. However, harmful mutations in either BRCA1 or BRCA2 can reduce their effectiveness, which may increase the risk of developing breast and ovarian cancer.
While there are other genetic mutations that can also elevate the risk of breast cancer, BRCA1 and BRCA2 mutations are the most common. Genetic testing can help determine if you carry these mutations.
How are BRCA Genes Passed?
BRCA mutations can run in families, or they can develop randomly due to genetic changes. Up to 10% of breast cancer cases are hereditary. If you have a family history of breast cancer, BRCA gene testing can help you understand your personal risk and guide your healthcare decisions.
Can the BRCA Gene Skip a Generation?
BRCA gene mutations can be passed from parent to child, so they can’t skip generations. If a parent carries the mutation, there’s a 50% chance of passing it on to their child. However, inheriting the mutation does not guarantee a cancer diagnosis — it only increases the risk. Since both parents contribute genetic material, someone with a family history of BRCA mutations may not necessarily inherit it.
Understanding the Impact of BRCA1 and BRCA2 Genes
Did you know that aside from skin cancers, breast cancer is the most common cancer among women? About 1 in 8 women will develop it in their lifetime. Ovarian cancer is less common, affecting about 1 in 91 women. If you have a BRCA1 or BRCA2 mutation, the odds of developing either of these cancers are greatly increased.
- Women with a BRCA1 mutation have a 55-72% lifetime risk of breast cancer.
- Women with a BRCA2 mutation have a 45-69% lifetime risk.
BRCA mutations also impact your risk of triple-negative breast cancers. This aggressive type grows quickly and is more likely to spread or come back after treatment.
BRCA mutations also affect the risk of ovarian cancer.
- Women with a BRCA1 mutation have a 36-58% lifetime risk of ovarian cancer.
- Women with a BRCA2 mutation have a 13-29% lifetime risk.
Since ovarian cancer is often diagnosed in later stages, some women with BRCA mutations choose to have their ovaries and fallopian tubes surgically removed as a preventive measure.
Who Should Consider BRCA Gene Testing?
A BRCA mutation occurs in about 1 in 400 people. Genetic testing can provide answers if you have an above-average risk. You may be eligible for BRCA genetic testing if you have:
- A family member who was diagnosed with breast cancer
- A relative with a known BRCA gene mutation
- A personal history of breast cancer, especially if you were diagnosed before age 50
- A history of triple-negative breast cancer
Certain populations, like women with Ashkenazi Jewish ancestry, may have a higher risk of the BRCA gene mutation than the general population. Additionally, men can carry and pass on BRCA mutations, which increases their own risk of breast and prostate cancer. If you think you may be at risk, consider speaking with a genetic counselor at Windsong Radiology.
What to Expect from Genetic Testing
The Windsong Breast Care Hereditary Cancer Risk Program can help you make informed decisions about genetic testing, set up a risk assessment, and discuss ways to minimize cancer risk. Additionally, Windsong offers affordable direct pay options for all patients who may not qualify for testing through their insurance provider.
If you choose to pursue genetic testing with Windsong, the first step is to make an appointment for Genetic Counseling and Testing. No referral is needed. When you schedule your appointment, they will ask for a brief family history. After the appointment is scheduled, you will receive an email from Windsong that includes a more detailed questionnaire about your family history. If possible, talk to your family members about a history of breast cancer before your appointment. This information will help create your family pedigree, which will be reviewed with you.
At your appointment, you will meet with a Genetic Specialist to discuss the questionnaire results and family history and complete a Risk Assessment Test. Based on your family history and risk assessment, the genetic specialist will review the various blood or saliva blood panels recommended for you and discuss the risks and benefits of getting the genetic testing done.
Once you decide to proceed with the genetic testing and are fully informed and all your questions are answered, the genetic assistant will collect a sample of your blood or saliva, and you will sign a consent form allowing the testing to be completed. Once your sample is collected, results will be available within about three weeks. Negative results will be mailed to you. If the results are positive, a Genetic Counselor will call you to discuss your results.
Understanding Your Test Results
- A positive test result means that your risk of breast or ovarian cancer is higher than average. It does not mean you currently have cancer or that you will definitely get cancer in the future. If you have children, there’s a 50% chance you’ll pass the BRCA gene mutation to the next generation.
- A negative test result means that your genetic risk of developing breast or ovarian cancer is not higher than average, even if someone else in your family has a BRCA mutation. It does not mean you can’t or won’t get cancer. Other factors or genes may still affect your cancer risks.
- A result indicating a variant of uncertain significance (VUS) means the test has detected a change to your BRCA1 or BRCA2 genes, but it’s not clear if this change increases your cancer risk. Your doctor should conduct further testing for more information.
What to Do if Your BRCA Test Result Is Positive
If your test results show a BRCA mutation, a Genetic Counselor can help you understand what this means for your health and your family. They will guide you through the testing process, provide information about treatment options, and offer support.
In the meantime, there are steps you can take to live well and possibly minimize your cancer risk:
- Maintain a healthy body weight.
- Stay physically active.
- Limit alcohol consumption.
- Schedule regular medical check-ups.
- Conduct monthly breast self-exams.
- Get annual mammograms, especially if you’re age 40 or over.
If you test positive for a BRCA mutation, your doctor may recommend specific screenings and treatments:
- In addition to annual 3D mammograms, your doctor may suggest supplemental breast cancer screening methods such as a breast MRI or breast ultrasound. This is especially important if you have dense breast tissue. While 3D screening mammography remains the standard of care for breast screening, these supplemental options can provide additional information.
- Ultrasounds for ovarian cancer can help detect cancer sooner, increasing the chances of successful treatment.
- There are preventive medications that can help reduce your risk of cancer.
- Some women choose to have risk-reducing surgery, like a mastectomy (removal of breast tissue) or oophorectomy (removal of ovaries) before they develop cancer. This can significantly reduce risk, but this is a major decision that you should make only with a doctor’s guidance.
Putting Your Health and Future First
You can’t change your DNA, but genetic testing for BRCA1 and BRCA2 mutations can help you understand your health and guide healthy lifestyle choices. If you have an increased risk for breast or ovarian cancer, talk to your doctor about risk management strategies, healthy lifestyle changes, and supplemental screening as part of your preventive health plan. There is power in knowing your risk and taking steps to put you and your health first.
