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Knowledge is Power | BRCA Gene Testing for Breast Cancer

Genetic testing empowers women in the fight against breast cancer.

One in eight women will develop breast cancer.

It’s a frightening statistic that will be shared repeatedly during National Breast Cancer Awareness Month (NBCAM). And while it is accurate, it’s a statistic that I always caution could benefit from some perspective.

The one-in-eight ratio represents a lifetime risk, one that increases with age.

At age 40, for instance, your chances of developing breast cancer are only about one in 250. At age 50, it’s one in 50. And, only when you reach age 80 do your chances rise to one in eight.


Getting proactive with genetic testing

There are exceptions to those odds, however, for the roughly 5 percent of women who have a genetic mutation in their BRCA1 and BRCA2 genes.

What is BRCA?

Definition The name “BRCA” is an abbreviation for “BReast CAncer gene.” BRCA1 and BRCA2 are two different genes that have been found to impact a person’s chances of developing breast cancer.

These genes produce tumor suppressor proteins, which help repair damaged DNA. When mutated or altered, however, DNA damage may not be repaired properly and cells are more likely to develop additional genetic alterations that can lead to cancer.

Unfortunately, women with this gene mutation have an almost 85-percent chance of developing breast cancer.

The much more promising news, however, is that simple genetic testing can identify those with the mutation, allowing them to take proactive and preventive measures to help protect themselves.

As you can imagine, given the millions of families who have been affected by breast cancer, this testing is the subject of much interest and conversation.

With that in mind, here are my answers to some of the most common questions I receive about genetic testing for breast cancer screening:


Who should be tested for BRCA?

Although the test is simple (conducted using only saliva or a small blood sample), it’s not something I recommend to everyone.

But I do encourage anyone with a significant family history of breast or ovarian cancer to take the test, including anyone with a first-degree relative (mother, daughter, sister) who developed breast or ovarian cancer before menopause.

There are other health and family-related red flags (see below) that your doctor and mammogram clinic staff can help you identify and determine if a genetic test may be right for you.


Breast cancer risk red flags

Your doctor and staff at your chosen mammogram clinic are the best people to help you determine if gene mutation testing is right for you. But here are some red flags that can influence your chances of developing breast cancer.

  • Women with a first-degree relative (mother, daughter, sister) who developed breast or ovarian cancer before menopause.
  • Women who began menstruating before age 12.
  • Women whose menstruation ends after age 50.
  • Women whose first pregnancy occurs after age 30.

It’s also important to note that because today’s genetic tests have improved significantly over earlier versions, those at significant risk who were tested several years ago may consider a re-test for additional peace of mind.


What is the benefit of knowing I have a BRCA gene mutation?

Years ago, when there weren’t as many options for treating and caring for those who tested positive, this was a more difficult question to answer.

Today, I’m pleased to say there are a wealth of available treatments and strategies to help those who test positive for the BRCA genes.

And so my current answer to this question is that knowledge is power.

The overwhelming majority of women whom I encounter after testing positive actually feel a sense of relief that they know.

Armed with the information that they have the gene mutation, they feel empowered to take control of their plan for care and prevention.


What are the options for those who have the BRCA gene mutation?

With the knowledge that you may be at higher risk for breast cancer, the most common course of action is to become much more vigilant in your breast cancer screening.

In addition to annual mammograms, I also recommend an annual MRI, which is the best screening tool available. Regular exams by a breast specialist or surgeon are another sensible and effective layer of prevention.

Other women choose more aggressive preventive steps in the form of surgical removal of their breast tissue.

Obviously, it’s a decision that doesn’t come without extensive dialogue with family, doctors, genetic counselors and psychologists. But it’s one that gives many women comfort by removing the significant burden of living their lives waiting for the other shoe to drop.

It’s a decision that’s also been made easier by the fact that post-mastectomy surgery options have advanced dramatically in recent years. With the reconstruction options available today, women are able to feel feminine and whole again.


Be your own advocate

It’s important to note that at the end of virtually any question I answer about breast cancer, I strongly encourage women to talk to their doctors, to ask questions and to be an advocate for their care.

With so many effective preventive tools at our disposal, including genetic testing, the most important step you can take is to engage in dialogue with those who can help.


About the Author

Author Arlene Sussman, MD

Medical Director, Breast Imaging. Dr. Sussman heads vRad breast imaging services, striving to make high quality diagnostic expertise accessible everywhere – from large urban to remote rural communities. Recognizing a lack of medical research specific to women, she chose her specialty to better represent them and to help advance the understanding of women’s health issues. Dr. Sussman is a frequent contributor to news organizations – from trade journals to CNN – where she advocates for breast health education and promotes the life-saving potential of regular mammograms.

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