How to Prepare for Genetic Testing for Breast Cancer

Posted On: May 9, 2023 By CIW

“Breast cancer is definitely the number one cancer that will affect women all over the country, and it’s a topic…near and dear to many people’s hearts because, most likely, you’ve had a family member affected by this disease” (Dr. Stephanie Lam). Because breast cancer is so common, you might be concerned about your risk. Genetic testing and screening can help you know the answer.

How Does Genetic Testing Show the Risk of Breast Cancer?

Genetic testing is an effective and reliable way to determine whether you are at a higher risk for breast cancer. These genetic tests will look for genetic mutations on the BRCA1 and BRCA2 genes that indicate this higher risk.

Genetic testing is relatively simple and painless. Once you have consulted with a genetic counselor and determined that testing is worthwhile, a blood or saliva sample will be taken and sent to a lab. Scientists will analyze the DNA found in this sample and check for all possible gene mutations, including other cancers. The results typically come back in about three weeks and will be read as positive (indicating a higher risk of developing cancer), inconclusive (indicating an unknown variation in your genes), or negative (indicating you are not at risk).

What to Do if Genetic Testing for Breast Cancer is Positive?

If the results are positive, you can schedule another appointment with your genetic counselor and doctors to discuss the results in greater detail and determine treatment options. They may recommend more frequent breast cancer screenings or starting your screenings earlier.

Chances for a good outcome are significantly improved if breast cancer is diagnosed and treated early. Breast cancer is treatable. It’s also important to remember that a positive test for the presence of BRCA1 or BRCA2 mutations is not a diagnosis. Even though you are at increased risk of developing breast cancer, it is not a guarantee that you will get it.

Breast Cancer Screening

A breast exam is the first step of breast cancer screening. Breast examinations are performed at each routine gynecological appointment with an OB/GYN. Dr. Lam describes breast exams as “screening tool[s] for us to help look for and identify breast cancer, or lumps and bumps that may be precancerous.” Around the age of 40, women will also start to have routine screening mammograms (X-rays of the breasts) to check for signs of breast cancer. This test may be ordered earlier than 40 if a women is at an increased risk of breast cancer.  There are times where MRI’s are used to supplement mammographies as screening tools.

Along with mammograms, ultrasound tests can be used to look at cysts or tumors in the breasts for more accurate diagnosis. Most of these lumps are not cancerous so if a lump is found, there is no immediate cause for concern. However, a biopsy will be performed to make sure it is not cancer. If the tumor is determined to be cancerous, further treatment can be discussed and we can recommend genetic counseling. Dr. Lam offers reassurance, stating that “breast cancer is one of the most treatable and curable cancer.”

Genetic Testing in New York City

If you have a family history of cancer and believe you are at an increased risk, schedule a genetic screening test with our genetic counselor, Dr. Goldwaser. It’s never too early to take steps for your health and wellness and our team is here to help with compassionate care at every step.

Carnegie Imaging for Women blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!

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