Testing for the BRCA Gene: Taking Your Power Back
By Emma Haggerty
reviewed by juliana ascolani
Breast and ovarian cancer run in my family. But at twenty-five, I haven’t had to deal with this reality yet. And while it’s true that having a history of breast or ovarian cancer in your family will raise your risk of the diseases, I’m not worrying — I’m taking action.
You may have heard of the BRCA gene through the media, or perhaps through Angelina Jolie’s story, who underwent a double mastectomy after discovering she had the BRCA1 gene back in 2013. What Jolie opted for is known as a prophylactic mastectomy, a preventive surgery for those with genetic risk of developing breast cancer. Many people were shocked by this decision, and some women also carrying the gene even followed suit and got tested shortly after the news broke.
Understanding your health is a personal journey, and one that should be yours and yours alone. Whatever decision you do make about your health, don’t make it based on fear — make it based on fact.
What is the BRCA gene?
The word cancer is still a word that comes with fear, misunderstanding, and stigmatization — as is mutation. But knowing you have a mutation that could influence your risk of cancer doesn’t have to be scary; after all, knowledge is power. But what exactly is the BRCA gene and how is it linked to cancer?
A gene contains DNA information — the genetic information passed from one generation to the next — inside each cell of our body. When we see a gene mutation, it means that the DNA underwent changes at some point; a process that may change a gene’s functions and properties.
The BRCA gene’s primary function is collaborating in important processes related to breast and ovarian cancer: they produce proteins which help repair damaged DNA, so that it’s not expressed as tumor cells. When there’s a mutation of the gene, it doesn’t function properly, raising susceptibility to cancer. There are hundreds of possible mutations associated with these genes, and mutations can be unique to a family. According to this 2018 review article, “individuals with mutated BRCA genes are exposed to a significantly higher risk of cancer development compared to the rest of the population.”
The inherited risk associated with the BRCA gene
If you’ve gone to the doctor’s office recently, you may recall your doctor asking about your family medical history. This is a protective measure — it’s important for them to know if certain diseases have affected your family because this could increase your risk — but it doesn’t mean you will develop those diseases. However, with breast and ovarian cancer specifically, inherited gene mutations can raise your risk.
According to the Helen Diller Family Comprehensive Cancer Center, as many as one out of every eight women will face breast cancer at some point. Moreover, researchers believe 5-10%, and perhaps more, of these cases are linked to specific genetic mutations such as BRCA1 or BRCA2 among others.
About 10% of ovarian cancers in the United States are thought to be associated with BRCA1 or BRCA2. However, other genes are known to increase susceptibility and researchers are still learning more — there’s still a lot to hereditary risk we don’t know.
How does the mutation influence risk? Having one or more first-degree relatives can increase your risk. Women without hereditary risk have an average risk of 12%; that risk jumps to anywhere from 50-85% in those with BRCA1/2. Do remember that this is the inherited risk, not the rate.
Men, too, have a higher risk if they carry the genetic mutation — about 5-10% over their lifetime; it can also affect their chance of being diagnosed with prostate cancer.
In total, BRCA1/2 is linked to “almost one quarter of familial breast cancer.” This means everyone with this mutation is susceptible to a higher risk of cancer, which is why early testing can be so important.
My experience with BRCA gene testing
BRCA gene testing is expensive. As a student without the money to invest in testing, I didn’t set out to test for the BRCA gene — in fact, I was surprised to see it would be disclosed on my health report from a DNA testing company. Knowing that I would soon be aware of my status regarding the BRCA gene was both nerve-wracking and liberating. When my report came back, thankfully, negative for BRCA1 and BRCA2 genetic mutations, I felt relieved — but should I have been?
The test conducted on my DNA only looks for three mutations, and as I stated earlier, there are hundreds of possible BRCA mutations. Additionally, confirmatory testing is often recommended for positive results.
In fact, one study found that the DNA test “misses almost 90 percent of BRCA mutation carriers, both in those with and those without a personal or family history of cancer.” While it could be useful if you do have one of the three mutations, a negative result doesn’t rule out other possible BRCA gene mutations.
Comprehensive genetic testing would be much more thorough and provide more answers, of course, but for a much higher cost. There are other testing options in the works, which will offer lower-cost testing options for women who would otherwise be unable to afford genetic testing.
Informing yourself about your genetic risks
The problem with risk assessment is just that — it’s based on risk, not a diagnosis. Sunita Desai, assistant professor at NYU School of Medicine and former researcher at Harvard Medical School, says, “While there are clear benefits to advances in genetic testing, a positive genetic test could also create anxiety and compel patients and clinicians to perform further testing or undergo premature or unnecessary clinical interventions.”
The American Cancer Society recommends that women at high risk of developing breast cancer, or those already diagnosed, take a risk assessment. Instead of demanding genetic testing, try speaking to your doctor first. There are options available other than surgery, and it’s important to consider all courses of action in order to make an informed decision.
If you do decide to take a risk assessment and find out whether you have the BRCA gene, medical experts are available to help you interpret your tests and discuss your next steps. Taking action with your health doesn’t mean making rash decisions, but rather learning about your own body and the choices you can make to ensure your health.
Taking your power back
While I may not have the BRCA gene myself, I do have an increased risk of developing breast and ovarian cancer due to my family history. So, if you don’t have the financial means to take advantage of risk assessment, talk to your family. Learn more about your family’s medical history so you can be prepared to be screened earlier in life, rather than later.
Finding out information about your health can be scary and overwhelming, but it’s valuable to be informed. Take your power back and, if you have the means, get tested if you know you’re at risk based on your family history. Anyone, no matter your gender identity, can be affected by hereditary mutations. Consulting a medical expert who can provide you with genetic testing options, can help to clarify your hereditary cancer risk.
Knowing your health status is important for a multitude of reasons, but the most crucial? Being aware means you’re able to take action. As always, we encourage you to take your own health into your hands — it’s the best thing you’ll do for yourself this year.
I’m an experienced content writer with a passion for reading, writing, and traveling. I have a background in linguistics, literature, creative writing, and anthropology. My travels have taken me to many amazing places and brought me the best of friends, but along the way, I’ve also learned the importance of staying healthy, so I can tackle my goals anywhere I go. I’m excited to bring to you my experience and enthusiasm for a healthy lifestyle.
I am a health researcher who bridges data science and health research with direct experience in healthcare and university institutions, passionately and collaboratively pursuing the integration and synergy of all key areas of health and wellness. I believe in inclusion as the main pillar of our society, especially when it comes to health. Promotion and prevention in health empower people to adopt healthy decisions, thus I have been working during the last years in the development of inclusive and holistic health systems. What do I enjoy the most about my job? Realizing how we are making a difference in people’s lives, and seeing the result in their health journeys. I enjoy the challenge of questioning new paradigms and creating debate around them.
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