Am I at High Risk for Breast Cancer? Genetic Testing for BRCA Gene, Risk Management, and Preventative Steps

Some of our everyday choices, like smoking, being inactive or not eating well, can increase the risk of certain cancers. But it's not just about lifestyle — our genes play a big role too. For instance, if you inherit harmful changes in the BRCA1 or BRCA2 genes, your risk of developing breast and ovarian cancer can be higher.

According to the National Cancer Institute, these genetic mutations significantly increase the likelihood of these cancers. It's always a good idea to be aware of your family's medical history and discuss any concerns with your healthcare provider. They can help you understand your risks and take steps to stay healthy.

What are BRCA1 and BRCA2 Genes?

BRCA1 and BRCA2 are genes that help repair damaged DNA. When these genes have harmful mutations, they can increase the risk of breast and ovarian cancer. These mutations can be inherited from either parent, so it's important to know your family history and consider genetic testing if needed.

For women with a BRCA mutation (about 5% of those diagnosed with breast cancer), the lifetime risk of developing breast cancer is 60-90% for BRCA1 and 45-85% for BRCA2. These genes are also responsible for 85-90% of hereditary ovarian cancers.

BRCA mutations may put you at risk for:

• Breast cancer, including male breast cancer
• Ovarian cancer
• Pancreatic cancer
• Prostate cancer
• Melanoma

Should I Get Genetic Testing?

If you have a family history of breast cancer, it's important to talk to your doctor about your risk and consider genetic testing to determine if you have BRCA1 or BRCA2 mutations.

Genetic testing is recommended if you have any of the following:

• A known BRCA1 or BRCA2 mutation in your family
• A strong family history of breast or ovarian cancer
• A moderate family history of breast or ovarian cancer and Ashkenazi or Eastern European Jewish ancestry
• A personal history of ovarian, fallopian tube, or peritoneal cancer
• A personal history of certain types of breast cancer

By understanding your genetic risk, you can work with your healthcare provider to develop a personalized plan for monitoring and reducing your risk.

Reducing Your Risk of Breast Cancer with a BRCA Mutation

The good news is that even if you are at a higher risk of breast cancer because you carry the BRCA mutation, you can manage your breast health. Your doctor may recommend:

• Screenings: More frequent breast screenings, such as mammograms and MRIs to monitor for any early signs of breast cancer. Additionally, they might suggest regular screenings for ovarian cancer, which could include transvaginal ultrasounds and blood tests to check for markers like CA-125. Regular check-ups and screenings can help catch any abnormalities early, increasing the chances of successful treatment and better outcomes.
• Medication: Medications may lower your risk of breast cancer. These medications, like tamoxifen and raloxifene, help block estrogen's effects on breast tissue. Other drugs, such as anastrozole and exemestane, reduce estrogen levels in your body.
• Surgery: Surgery to lower your risk of breast cancer could involve removing both breasts, known as a bilateral prophylactic mastectomy This can reduce the risk of breast cancer by about 90%. Another option is removing the ovaries and fallopian tubes, called a prophylactic salpingo-oophorectomy, which can lower the risk of both ovarian and breast cancer.
• Have Conversations with Family: Sharing your genetic information helps family members understand their own risk. They can then take proactive steps, like getting genetic testing and starting regular screenings early, which can lead to early detection and better outcomes.

When you and your family members know about the BRCA mutation, you can make informed decisions about your health.

Take Control of Your Breast Health

Early detection of breast cancer can make a significant difference in treatment outcomes.

“Women with BRCA mutations have a significantly higher risk of developing breast cancer by the age of 70,” said OU Health breast radiologist Dr. Natalie Stratemeier, M.D., assistant professor in the Department of Radiological Sciences at the University of Oklahoma College of Medicine. “At OU Health, we have dedicated genetic counselors and nurse navigators to help patients understand their risk of not only breast cancer, but also other cancers they may be at increased risk of developing, such as ovarian cancer. They help guide and inform patients about supplemental breast cancer screening as well as discuss additional preventative options as part of our high-risk program.”

Understanding BRCA mutations is essential for managing your breast health. By taking proactive steps, such as genetic testing, regular screenings, and maintaining a healthy lifestyle, you can significantly reduce your risk of developing breast cancer. Genetic testing can help you determine if you carry BRCA1 or BRCA2 mutations, allowing you and your healthcare provider to create a personalized plan. Regular screenings, like mammograms, are crucial for early detection and can lead to more effective treatment options. Additionally, adopting a healthy lifestyle through a balanced diet, regular exercise, and avoiding smoking and excessive alcohol can further lower your risk.

Don't wait to take control of your breast health journey. Schedule a mammogram or consult with your healthcare provider at OU Health to discuss your options and create a plan that's right for you. You can learn more about breast health services at OU Health or call (800) 422-4626 to make an appointment.