I have an abnormal gene linked to breast cancer, now what?

Cancer Types, Education

Sarah just received the results from her breast cancer gene test back and discovers she carries a genetic mutation associated with an increased risk of breast cancer. She’s concerned, maybe even a little frightened right now. What does a positive breast cancer gene test mean for her future? If she has children, are they also at risk?

Right at this moment, it’s important to remember that while genetic mutations can increase your risk of cancer, it does not automatically mean you will develop the disease. Knowing you have an increased risk is a positive development, as you can act to lower your risk and detect potential cancers at an early stage. Should you develop breast cancer, an awareness of contributing genetic factors helps your cancer team determine the most effective treatment plan for you. The cancer team may consist of a combination of the following disciplines: oncologist, pathologist, radiologist, oncology nurse and/or nurse practitioner, dietician, social worker, chaplain, and/or a palliative team care member.


How High is My Risk for Breast Cancer?

A woman on average, has a one-in-eight chance of developing breast cancer in her lifetime. The two most common breast cancer gene mutations, BRCA1 and BRCA2, increase the lifetime risk of developing cancer to at least three-in-five.

Less common genetic mutations capable of causing breast cancer include:


  • TP53 (tumor protein p53)
  • STK11 mutations (Peutz-Jegher syndrome)
  • PTEN (Cowden’s syndrome)


Moving Forward after Your Breast Cancer Gene Test

As noted above, a positive gene test does not necessarily mean you will develop breast cancer, nor does a negative test mean you won’t develop cancer. A genetic predisposition for cancer is only one of multiple risk factors. Other risk factors include: age, environment, and lifestyle.

Should you test positive for mutations in genes that elevate your risk of breast cancer, you should talk to your physician, an oncologist or genetic counselor. Together, you can create a medical plan that includes lifestyle changes and other risk reduction strategies. Increased screening will probably be recommended as well to catch any developing cancer as early as possible.

Faced with the increased risk that comes with a positive genetic test, some women may opt for risk reducing mastectomies. While a risk reducing mastectomy reduces the risk of breast cancer by up to 90%, such surgery is usually only recommended for women with an exceptionally high risk of breast cancer. In most cases, lifestyle changes and increased screening are the initial steps you need to take should you receive a positive result on your breast cancer gene test. You can further discuss this with your physician to decide which interventions will be best for you and most effective for your case.


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