Ask the Expert: Senior Genetic Counselor, Dana Clark, Explains BRCA Gene Mutations

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For those with mutations in two specific genes, BRCA1 and BRCA2, risk of breast and ovarian cancer are much higher than those who don’t have the mutations — and they’re also associated with slightly higher risk for prostate, fallopian tube, peritoneal, and pancreatic cancers. These genetic anomalies are hereditary, affecting both men and women, and can be passed down from both your mother’s and your father’s side of the family.

If you’re considered at-risk of carrying the mutation, you’ll most likely be referred to a genetic counselor, who can walk you through everything from test specifics to risk levels. To understand more about the process, and the mutation, we talked with Dana Clark, M.S., L.C.G.C., senior genetic counselor at the Basser Center for BRCA at Penn Medicine.

“The DNA test is done through blood, so it’s a simple blood draw.” – Dana Clark

HealthCentral (HC): When would someone be considered to be at high risk for having a BRCA mutation?

Dana Clark: The first would be if you’ve had a personal history of breast or ovarian cancer, particularly before age 45, and you’re concerned about recurrence, or about getting another type of cancer. For example, you may have had breast cancer, and you want to know if you’re also at higher risk of ovarian cancer, which would happen if you carry a BRCA mutation.

The other high-risk scenario is if you have a strong family history, particularly of breast and ovarian cancer. Although the BRCA mutation is associated with a few other cancer types, it’s especially linked to those two. But keep in mind that a family history doesn’t mean one person had it, like your aunt or your grandmother, or even your mother. If it’s just one relative, and she developed cancer after menopause, the chance that you have the mutation is very small compared to someone with multiple relatives who’ve had breast or ovarian cancer, especially if those people developed cancer before they were 40 years old.

HC: What’s involved with getting the test?

Dana Clark: The DNA test is done through blood, so it’s a simple blood draw. From there, it’s sent to a lab and you usually receive results in two to three weeks. The results are given to the patient as well as his or her physician. From there, if it’s positive, it’s a good idea to go back to the genetic counselor and talk about your options.

Concerns that I hear often about the test are that it’s expensive, insurance won’t cover it, or that you’ll be denied insurance in the future based on the results. Fortunately, none of those are the case. In the past, the test was costly, but it’s gone down in price quite a bit — from around $3,000 to now about $300. We’ve found that insurance covers it since it’s considered medically necessary. And, a federal law was passed in 2008 that stipulates nobody can use this information against you, whether that’s insurers or employers.

HC: What other misconceptions about the BRCA mutation do you hear the most?

Dana Clark: The top one is probably that you can’t inherit the mutation from your dad’s side of family, which is wrong, wrong, wrong. Also, that it’s only women who should be concerned about this mutation. Men get breast cancer as well, and there’s a link to prostate and pancreatic cancer, so this affects everyone.

Another is a belief that if you have the BRCA mutation, you’ll get cancer. Of course, it does mean your lifetime risk of cancer is much higher than someone without the mutation — in the case of breast cancer, your risk is an 80 percent likelihood. But that’s not 100 percent. I like to say that you’re inheriting a risk of cancer, you’re not inheriting cancer. There’s a big difference.

HC: At what point should someone who suspects they may have the gene mutation get the test?

Dana Clark: BRCA does not have pediatric cancer risk, so we dissuade people from testing children. At age 18, someone can consent for themselves, but even then, we feel that 18 is a volatile age, and cancer risks don’t tend to go up until age 25. So, we don’t like to see an 18-year-old who’s just navigating college or the workforce and getting their start in adult life suddenly get burdened with anxiety about this result.

That said, some people just want to know. We’ve had women come in on their 18th birthdays because they have cancer history in their families and they want the information. We don’t recommend screening until age 25 for those with BRCA mutations, though, so even if they test positive, they have seven years before starting on a regular screening schedule.

HC: In addition to a rigorous screening regimen, what else can people with the BRCA mutation do?

Dana Clark: Focusing on health is important because screening isn’t a prevention tool, it’s just a way to detect any cancer earlier. And in the case of ovarian cancer, screening methods aren’t as reliable as mammograms and MRIs for breast cancer. So, doing as much as you can for prevention is very important.

We say that anything beneficial for your heart is likely protective against cancer, including those associated with BRCA mutations. That means eating nutrient-dense foods, lowering stress, getting enough sleep, moderating alcohol intake, and exercising regularly. Of all of those, exercise has been the most studied in terms of its protective effects, but they’re all important. Also, with a BRCA mutation, you carry a higher risk of skin cancer, so wearing sunscreen is more important for you than someone without the mutation.

Some people are reluctant to get tested because they’re scared about a positive result. But knowing if you have the mutation can help you, and help your family, to feel empowered about making decisions that affect your health, long-term.