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Gene Testing for Breast Cancer: What To Expect

Breast cancer is a prevalent concern for many women. While most women who develop breast cancer do not have a family history of the disease, those with close blood relatives affected by breast cancer face a higher risk. 

Having a first-degree blood relative (mother, sister, or daughter) with breast cancer almost doubles a woman's risk, and having two first-degree relatives with breast cancer increases her risk by about 3-fold, according to the American Cancer Society.

In addition to getting your annual mammogram (starting ten years before the earliest breast cancer diagnosis in your family) and performing breast self-exams, there are clinical exams you can discuss with your doctor, including gene testing for breast cancer. Understanding the genetic factors associated with breast cancer can provide valuable insights for early detection and tailored prevention strategies.


What is Genetic Testing for Breast Cancer?

Genetic testing for breast cancer is a process that analyzes specific genes associated with an increased risk of developing breast cancer. One such gene is BRCA. 

Elizabeth Stark, MS, CGC, board-certified genetic counselor, says, “BRCA is a tumor suppressor gene; its job is to protect us from cancer. Everyone has two copies of BRCA, one from your mom and one from your dad. You only need one working copy of BRCA to protect you from cancer. When someone has a mutation on one copy of the BRCA gene, it means that they are missing a backup copy and the chances they will be diagnosed with breast or ovarian cancer is higher.”

What are the chances of inheriting the BRCA gene?

“Inheriting a genetic mutation linked to breast cancer means that a woman’s chance of developing breast cancer is higher than other women. Individuals with a predisposition to cancer may benefit from earlier screenings to catch a cancer at its earliest stages when it is most easily treatable,” said Dr. Stark. 

“Most cancer is sporadic and not linked to a family history at all! Only about 10 to 15 percent of breast cancer is due to a genetic link. This is why it is so important for EVERY woman [starting at age] 40 to get her mammogram every single year.”

Genetic Testing for Breast Cancer: The Process

Discussing genetic testing for breast cancer with your doctor is an essential step if you have concerns about your family history and genetic risk. Dr. Stark recommends that anyone who is worried about a family history of breast cancer meets with a genetic counselor. 

She states, “Your genetic counselor will go over your family history in detail and also talk to you about insurance coverage and provide some guidance about what to expect from the results. Meeting with someone doesn’t mean you will definitely do testing, but it will give you a lot of information to help you make the best decision for yourself.”

If you believe testing is right for you, you should do your research and decide what company is best, and determine if you want to do a full cancer panel or just genes associated with breast cancer.

There are different companies that offer genetic testing for breast cancer. Here are just a few:

  • MyPRS
  • Brcassure
  • Natera’s Empower Hereditary Cancer Test
  • Color Genomics (you can use Brem’s discount at checkout: BREM)

The tests typically involve a blood sample or saliva swab. The sample is then sent to a laboratory for analysis. A healthcare professional, such as a genetic counselor or nurse, can administer the test. Some kits can also be done at home, administered by yourself.

The waiting time for results can vary depending on the testing company used. Typically, results are available within a few weeks. Your genetic counselor or doctor will then interpret the results and provide you with an explanation of the findings. They will discuss any potential risks and recommend appropriate screening and prevention measures based on the results.

If You Have the BRCA Gene, What Should You Do?

If you test positive for a breast cancer mutation such as BRCA, remember that you are not alone. Your care team, including doctors and counselors,  are there to support you in making informed decisions about your health. There is no one-size-fits-all approach. 

Dr. Stark reminds us that cancer genetics are all about prevention. She states, “there is no one ‘right answer’— it really comes down to figuring out what is most important to you. For some women, that looks like a high-risk screening path, alternating a mammogram with an MRI every six months. For some women, that looks like considering prophylactic surgery, such as a prophylactic mastectomy.”

On the other hand, if you don't have the BRCA gene or any other genetic mutations associated with breast cancer, it does NOT mean you should disregard regular breast cancer screenings. Early detection is vital, and all women, starting at the age of 40, should get annual mammograms and perform breast self-exams regularly.

Remember, knowledge is power. Understanding your genetic risk can empower you to take proactive steps in managing your breast health.

For additional support and resources, we invite you to explore the breast health resources we have available for you. Together, we can raise awareness, improve early detection rates, and empower women in the fight against breast cancer.



About Elizabeth Stark, MS, CGC

Elizabeth Stark, MS, CGC is a board-certified genetic counselor specializing in working with individuals who have a personal or family history of cancer. She currently works as a Cancer Genetic Counselor and the Outreach and Education Manager at the Inova Saville Cancer Prevention Center.