Understanding Genetic Testing for Breast Cancer
Back in 2013, Angelina Jolie made headlines when she announced that she carries the BRCA 1 gene mutation, and consequently chose to have preventative bilateral mastectomies and reconstruction. Two years later, she also underwent removal of her ovaries and fallopian tubes as a preventive measure.
Because of the “Angelina Jolie effect,” genetic testing for breast cancer began to explode, and more and more women began to have prophylactic mastectomies to reduce their risk of developing breast cancer. But what is the BRCA mutation and how do you know if you should get tested for it, and/or take preventative measures with surgery?
Before we get into the topic any further, please note that the information provided in this article is not medical advice, and any questions you may have about your health should always go to your medical provider.
That being said, BRCA stands for BReast CAncer, and refers to two specific genes called BRCA1 and BRCA2 that play a crucial role in DNA repair, and when mutated, can increase a person’s risk of developing breast and ovarian cancer.
Every human has both the BRCA1 and BRCA2 genes. Despite what their names might suggest, BRCA genes do not cause breast cancer. They actually help repair DNA breaks that can lead to cancer and the uncontrolled growth of tumors. Because of this, the BRCA genes are known as tumor suppressor genes. However, in approximately .25% of the population, these tumor suppression genes do not work properly.
Who Should Consider Testing?
The BRCA gene test looks for DNA changes that increase the risk of breast and ovarian cancer. People in the following groups may consider testing:
A personal history of breast cancer
A personal history of ovarian cancer
A personal history of pancreatic cancer
A personal history of prostate cancer
A blood relative with a history of breast cancer, ovarian cancer, pancreatic cancer or prostate cancer
A blood relative who had genetic testing and was found to have a gene change that increases the risk of breast cancer
How Is Testing Done?
The BRCA gene test is most often a blood test. Sometimes other sample types are collected for testing, including saliva.
Before recommending testing, your healthcare provider will ask you for your personal and family medical history and help you determine whether testing is right for you.
What If I’m Positive?
A positive result does not mean you will develop cancer in your lifetime. Additionally, the majority of people who do develop breast or ovarian cancer do not have a BRCA gene mutation. However, it does mean you are more at risk than the average person.
Your healthcare team will create a personalized plan based on your age, medical history, and potential risk for cancer, which may include increased screening tests and possibly medication or surgery. Discuss all the options available to you, and the benefits and risks of each, with your healthcare provider.
Whether or not you carry the BRCA gene mutation, make sure you’re vigilant about your health with regular self-exams and healthcare visits.
