Assessing Cancer Risk

Genetic Testing Offers Valuable Insight

Marcum decided to explore genetic testing based on a family history of cancer.

In April 2017, Anna Lisa Marcum underwent a double mastectomy at MedStar Franklin Square Medical Center. What makes her story unique is that her decision to have surgery to remove her breasts was based not on her own medical diagnosis, but on her mother’s, her grandmother’s and her aunt’s. “My mom was diagnosed with ovarian cancer in her early 40s and died at the age of 48,” says Marcum. “My grandmother also had ovarian cancer, and my mother’s sister passed away in her early 60s from breast cancer. It’s pretty clear that we have this issue in our family.” 

Knowing that family history plays a critical role when assessing a woman’s risk for developing cancer, Marcum had genetic testing done a few years after her mom died. With two young children and a full-time job, she wasn’t sure if the time was right to take action. As a first step, she simply needed to know if she had inherited genetic mutations that would increase her risk for ovarian cancer, breast cancer or both. Results from her genetic testing confirmed that she had  a BRCA1 gene mutation. “In many ways I expected that result, but when I heard those words, it was still very upsetting and scary. I needed some time to process and educate myself about my options,” Marcum notes.

Marcum’s family has been extremely supportive of her decision to have surgery to reduce her risk of developing cancer.

“Seven years later, the time was right. My kids are older and a little more self-sufficient. And physically, I am in the best shape of my life, which I knew would help me recover from surgery  a little easier,” she adds.

Stories like Marcum’s are what inspired the opening of the High-Risk Assessment and Cancer Prevention Program at MedStar Franklin Square. Launched earlier this year, the program is designed to provide information, resources, guidance, genetic testing and proactive treatment options to those who have an increased  risk for developing cancer. The program focuses on the assessment, prevention and survival of cancer, looking first at genetic, environmental and lifestyle factors that impact and increase risk factors. Those who carry mutations most closely linked to cancer are then able to consider medication and surgical interventions that could significantly reduce those risk factors or establish a schedule for increased surveillance to detect and treat cancers at the earliest possible stages.

“In some cases, surgery makes the most sense. In other cases, patients can be prescribed medication that can cut their risk of developing hormonal positive breast cancer by as much as 50 percent,” explains Yvonne Ottaviano, MD, chief of Medical Oncology and director of Breast Oncology at MedStar Franklin Square.

yvonne ottaviano bel air cancer center
Yvonne Ottaviano, MD

Dr. Ottaviano’s hope is that the High-Risk Assessment and Cancer Prevention Program will reduce the number of patients—both men and women—who are diagnosed with cancers that have the strongest genetic links: breast, ovarian, colon, uterine and prostate. She emphasizes that men can also benefit from the services the program offers, as it’s possible  that a father with a mutation could pass it on to his sons and daughters alike. The insights that patients and their care providers can obtain through genetic testing can literally be lifesaving.

“If a parent is a BRCA1 gene mutation carrier, there is a 50 percent chance the child will carry it too. About half of the people we see with this hereditary link opt for preventive surgery. Yes, it’s a big decision, but we also know that the most aggressive measures give us the greatest chance for cancer reduction,”  adds Emily Kuchinsky, CGC,  a genetic counselor at MedStar Franklin Square. 

Emily Kuchinsky, CGC

Kuchinsky says that women who pursue a bilateral mastectomy, like Marcum, can reduce their risk of developing breast cancer by more than 95 percent. The procedure minimizes the amount of breast tissue that remains on a woman’s body. Similarly, those deemed at higher risk for the development of ovarian cancer can opt to have their ovaries surgically removed, leaving only a four percent chance that cancerous tissue will develop. Marcum will have surgery to remove her ovaries later this year. 

“Our program gives patients a place to start. We can conduct cancer risk assessment and possibly genetic testing to arm them with the information they need to make the best possible personal health decisions,” Kuchinsky notes.

For Marcum, the decision to  have surgery has brought an  end to many of the questions that kept her awake at night for many years. “It was always hanging over my head,” she says. “Do I keep toying around with time? Should I wait a little longer and see if anything happens? A lot of women have this mutation and never develop cancer; could that be the case for me? I am a perfectly healthy person—this is a major procedure; why am I going to put myself through all of this? In the end, I always came back to the fact that my mom was diagnosed around the age I am now. My risk factors are high based on my family history. I wanted to do whatever  I could to stack the odds in my favor; this is what gave me confidence in my decision.” 

Additionally, Marcum’s big decision has given her hope,  with a lot of major life events  to look forward to in the future.

“I want to make sure I am setting myself up as best I can to be here for graduations, wedding days and all of the other important events in my kids’ lives that my own mother missed out on,” adds Marcum, mom to Mollie, age 10, Ben, age 7, and Griffin, the family’s beloved German Shepherd. “It was traumatizing and very hard for me to go through so many milestones without my mom. I am doing everything I can to make sure I am here for my own kids as they grow.” 

Featured in Discover Summer 2017 Magazine.

For a physician referral please call

1-877-715-HOPE.

 

MedStar Franklin Square Medical Center
The Harry and Jeanette Weinberg Cancer Institute
9103 Franklin Square Drive
Baltimore, MD 21237

Call 443-777-7656 to talk to Emily Kuchinsky, MS, CGC, certified genetic counselor.


Learn More:

Fast Fact:

Testing a sample of blood from a family member who has or has had cancer can determine whether that person has a gene mutation that can cause cancer and be passed from generation to generation.

Did You Know?

Genetic testing can be useful for people with certain types of cancer that seem to run in their families. You may want to consider genetic testing if you have had:

  • Cancer at a young age
  • More than one kind of cancer
  • A close family member with cancer at a young age or more than one kind of cancer
  • Two or more close relatives on the same side of the family with the same or related cancers, especially if the cancer occurred at a young age

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