BRCA Gene Mutation: What it is and why you should care

What is BRCA? 

Although there are many factors that affect whether or not you will develop breast cancer during your lifetime, not all of those factors are lifestyle related. In recent years, scientists have discovered that there is a genetic component to whether or not someone will develop breast cancer. There are breast cancer genes, called BRCA, which is an abbreviation for BReast CAncer gene. And every one of us has these BRCA1 and  BRCA2 genes. They are large genes located on DNA chromosomes that affect the breasts as well as the ovaries.    

Normally, the BRCA genes help our bodies fight the development of breast cancer tumors. But occasionally, they develop a mutation that impedes their ability to suppress tumor development and growth. Just as we pass on our genes to our children, we can also pass on mutations. In the case of BRCA gene mutations, they can be passed to both boys and girls. Not all women inherit the mutation, but those who do are at greater risk of developing breast cancer and/or ovarian cancer compared with the general population. The likelihood of a mutation becoming cancer is anywhere from 10 to 20 times higher than for people who do not possess the mutation.

It is very important for each of us to learn our family’s health history, especially concerning breast or ovarian cancer. Because in many cases, knowing you are more likely to develop these diseases will allow for early detection and treatment, which increases the likelihood of survival. If your mother or sister has a BRCA mutation, there is a 50 percent chance you have it, too. You could also have the mutation from your father, but if there is not a history of breast or ovarian cancer in his family (his mother or sister), there’s no reason to assume risk. When there is a strong family medical history of cancer, the doctor may recommend gene testing, just to be sure. 

How testing predicts the development of breast cancer 

The exam for the BRCA1 and BRCA2 mutation is a simple blood test or saliva swab that uses DNA analysis to identify mutations in either of the two susceptible genes. 

A negative result doesn’t guarantee you won’t develop breast cancer, it may simply mean that you don’t have the mutation or that you might have a gene mutation which doctors haven’t discovered yet. Unfortunately, doctors and 

scientists don’t yet know everything there is to know about what causes breast cancer.

But what if you do receive a positive BRCA1 or BRCA2 test result? A positive test means you carry a gene mutation that increases your risk of cancer. It does not mean that you have cancer, or even that you are guaranteed to develop breast cancer, but it does mean that your risk is much higher than the general population. This information is important both because it will influence your screening regimen going forward, and also for your children, who are likely to inherit the mutation. 

When you test positive

As mentioned above, testing positive for the mutation does not guarantee you will get breast cancer, it simply increases the odds. But that increase means that you need to be proactive in your care. It also means that you need to understand what options are available so you can make careful, informed decisions about your future. The three most common ways of dealing with a positive BRCA gene mutation are:

1. Enhanced screening 

2. Chemoprevention

3. Risk-reducing or prophylactic surgery (sometimes referred to as double mastectomy)

Enhanced screening  – Mammograms, sonograms, MRI (magnetic resonance imaging). This means starting breast cancer screening at a younger age and more frequently than is recommended for low-risk women. Although this is common practice, you should also be aware that The National Institutes of Health reports that increased screenings may carry their own set of risks.

Chemoprevention – Chemoprevention is the use of medications to reduce the risk of cancer. Two chemopreventive drugs, tamoxifen [Nolvadex] and raloxifene [Evista]) have been approved by the Food and Drug Administration (FDA) to reduce the risk of breast cancer in women at increased risk, but the role of these drugs in women with harmful BRCA1 or BRCA2 variants is still not clear. However, these medications may be a good option for women who choose not to, or who cannot, undergo surgery. It is important to know, though, that the reported potential risks of these drugs include menopausal symptoms, blood clots, stroke, increased risk of endometrial cancer (tamoxifen), and allergic reactions (raloxifene).

Surgery  – In some cases, a woman may choose