Genetic Testing for Breast Cancer


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If there was a test that could tell you whether or not you were at a higher risk for breast cancer than the general population, would you take it? Or would you be concerned about what to do with the results? Genetic testing for breast cancer can offer very important information about your genetic makeup and its impact on your risk for developing breast cancer. Let’s take a look at what genetic testing means, who should get tested, the pros and cons, and how to get started. 

What is Genetic Testing for Breast Cancer?

Genetic testing involves a test that looks for inherited mutations in genes related to breast cancer. The most common genetic testing analyzes whether or not mutations are present in either the BRCA1 gene or the BRCA2 gene (3). It is important to note that positive results are not a breast cancer diagnosis nor do they mean that you will definitely develop breast cancer. What it means is that you have a gene mutation which greatly increases your risk of developing breast cancer in the future. It is also important to understand that genetic testing for breast cancer can still provide useful information even if you have already been diagnosed with breast cancer.

Are You a Candidate for Genetic Testing?

There are several factors you should consider when deciding whether or not genetic testing for breast cancer is right for you. Women with a BRCA1 or BRCA2 gene mutation have a 50 – 85 percent risk of developing breast cancer before the age of 70. If you or family members on either side of your family meet one or more of the following criteria, genetic testing may be beneficial for you:

  • Triple-negative breast cancer before the age of 60
  • Breast cancer before the age of 50
  • Ovarian cancer at any age
  • Male breast cancer at any age 
  • 3 or more relatives with breast cancer, ovarian cancer, pancreatic cancer, or aggressive prostate cancer
  • Ashkenazi Jewish heritage with a history of cancer

Other indicators that might mean genetic testing could be helpful include a history of cancer across multiple generations, developing cancer at a young age, and one person being diagnosed with multiple forms of cancer.

Studies show that most cases of breast cancer do not originate from an inherited gene mutation. However, it does still occur and the above factors help determine whether or not you are felt to be a candidate for having genetic testing.

Our High Risk Cancer Program, available to our patients, can help determine if genetic testing and counseling might be right for you.  

Limitations of Genetic Testing for Breast Cancer

As with everything in life, there are pros and cons to getting genetic testing for breast cancer(5). This is a decision that should be thought through with great consideration and with the understanding that just because it is recommended, it is still a personal choice.

It is important to understand that genetic testing is not a road map that tells you exactly what will and will not happen. Even though genetic testing is constantly improving it does have limitations. Receiving a positive result does not guarantee that you will develop that particular cancer and a negative result does not guarantee that you will not develop that particular cancer. 

However, it does provide an indication as to whether or not you have a higher than normal chance of developing that specific cancer during your lifetime and affords you the opportunity to take measures before-hand. On the other hand, there are instances in which the results are inconclusive which can cause anxiousness instead of relief. This is why genetic counseling is strongly encouraged to help you and your family deal with the range of emotions and psychological impact of genetic testing.

It is important to note that genetic testing is not just for those who have not been diagnosed with cancer. It can be a helpful way of indicating whether relatives might want to be tested. If you have the genetic mutation, then your children are likely to be candidates for testing. A genetic counselor can help you determine the best path for you to take based on your concerns, family history, medical history, etc.  

How Does Genetic Testing Work?

The actual process of genetic testing is very straightforward. A small sample of blood is taken and sent to the lab for DNA analysis. It can take up to several weeks to receive results. There is a possibility of three types of results from the DNA Analysis. The first is a positive result that means you carry the gene mutation that increases your risk of developing breast cancer. The second is a negative result, which means you do not carry the gene mutation, but it does not mean that you will not develop a non-hereditary form of breast cancer down the road. The third is an ambiguous result, which means a variant or change in your DNA has been found but it is unknown as to whether or not that particular change leads to a higher risk of breast cancer. 

Does Insurance Cover Genetic Testing for Breast Cancer?

Finances can be a huge concern when it comes to deciding whether or not to undergo genetic testing for breast cancer. How much is it going to cost? Will my insurance cover any of these expenses? The good news is that under the Affordable Care Act, insurance companies are required to cover women who meet certain criteria that show there is a genuine hereditary risk of a gene mutation for breast cancer. A genetic counselor can help you work with your insurance company and navigate the financial side of genetic testing to find an option that best suits you.   


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