Genetic Testing for Breast Cancer

If you know your risk factors for breast cancer, you are better positioned to get the right amount of screening to head it off. Genetic testing has become an important tool in assessing a woman’s risk for breast cancer. In the 1990s a link was found between two genes and cancer risk, BRCA1 and BRCA2, and women can now test for these mutations.

Our genes formulate the proteins that our body uses to regulate the function of our bodies’ tissues and organs. For the most part, these genes reproduce perfectly, but occasionally, there is a glitch in the system that causes a gene to malfunction. In this case, the mutated gene should normally produce a protein that helps to repair DNA, which in turn suppresses tumors. However, the BRCA1 and BRCA2 mutations inhibit this process, leaving the body susceptible to cancer growth.

Gene mutations are rare, and it’s thought that between 1 in 400 and 1 in 800 have the BRCA1/2 mutation. But these specific gene mutations have been shown to have a notable effect on women’s possibility of developing certain cancers, most notably breast cancer and ovarian cancer. For example, in the general population, around 12 percent of women will develop breast cancer in their lifetimes. Carriers of the BRCA1 and BRCA2 genes, however, can see that risk rise to as high as 65 percent by age 70.

To find out if you carry the BRCA1 or BRCA2 gene mutation, talk to your doctor about testing options. They can usually draw blood at your doctor’s office and send it for testing offsite. It’s important to remember that if a test comes back positive, it doesn’t mean you will get breast cancer. Similarly, a negative result doesn’t necessarily mean you won’t. The presence of the genetic mutation simply tells you about your risk factors, which should be considered as a whole with other lifestyle and health factors that can increase or reduce cancer risks.

Because the mutation is hereditary, it can be passed through families, from either the mother or the father. So, if you’ve been tested and you find you are a carrier, talk to family members about getting the testing done – even the men, they can be carriers too. Increasing awareness about genetic mutations can give your family a more complete view of their risks, too.


*The content on this website is for informational purposes only and is not medical advice. Please consult a physician regarding your specific medical condition, diagnosis and/or treatment.

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