Patient Care Recognition Women in Surgery

Genetic Testing and Breast Cancer Risk Assessment

Amy Cyr, MD, is wholly committed to helping women understand their risk for breast cancer and what they can do about it.

In 2013, Angelina Jolie learned that she was at high risk for developing breast cancer. Because she had a family history (her mother fought breast cancer for a decade), Jolie underwent genetic testing and found that she carried a breast cancer gene (BRCA). Jolie shared the deeply personal story of her genetic testing and the prophylactic bilateral mastectomy she had to reduce her risk of developing the disease. Her story, published as an editorial in the New York Times, drew new attention to genetic testing and the breast cancer genes BRCA 1 and BRCA 2.

As research furthers our understanding of genetics and the role genes play in cancer risk, more women are well-informed of their risk factors and are seeking medical assessment. Amy Cyr, MD, is helping these women understand their risk factors and the preventative measures they can take.

Cyr, an Assistant Professor of Surgery in the Section of Surgical Oncology, is a Washington University School of Medicine specialist in breast cancer risk assessment at Siteman Cancer Center and Barnes-Jewish Hospital. Most of Cyr’s patients at the Center for Advanced Medicine are women who have not been diagnosed with breast cancer. Instead, Cyr primarily sees women who think they might be at risk for developing breast cancer in the future.

Solving the Puzzle of Breast Cancer Risk Factors

“Many women are well-informed about breast cancer risk before making an appointment,” Cyr says. These patients often self-refer to Cyr because they have a family history of breast cancer, or are referred by primary care physicians who understand that Cyr’s specialization makes her an authority. “More and more women have heard of the BRCA genes, especially after Angelina Jolie shared her story, and these women know about the importance of family history, breast density and hormonal factors, too. I help them work out how all of these factors apply to them personally.”

Some of Cyr’s patients are younger women whose mothers have been diagnosed with breast cancer.

“These young women—whether they’re in college, starting a career or going through other life events—are at a busy time in life,” Cyr says. She is glad that younger women who may be at risk are taking action by scheduling appointments with her. “Learning that they might have a gene that puts them at higher risk of breast cancer can be scary,” Cyr recognizes. “But it’s important for them to know so that they can start screening early and be aware of their prevention options.”

A typical appointment with Cyr might last an hour. During this time, Cyr asks questions that help her calculate a patient’s risk according to an algorithm. As the appointment progresses, Cyr explains each risk factor to the patient, while also thoroughly answering the patient’s questions.

“It’s kind of like solving a puzzle,” Cyr says for comparison. “You’re drawing out the family tree, figuring out what the hormonal factors are and putting all of these pieces together to see the full picture.”

Some women are surprised by the amount of time Cyr spends with them. Care providers are busy, often requiring them to move swiftly between appointments. In Cyr’s case, focusing entirely on breast health and cancer allows her to dedicate more time to each patient while still helping the maximum number of women know their risk.

“As a physician, I love it,” Cyr states. “I don’t have to feel rushed. I like being able to take my time with each patient and make sure all of their questions are answered.”

Genetic Testing: Another Piece of the Puzzle

With the discovery of the BRCA genes, breast surgeons are at the forefront of genetic testing.  Scientific advancements continue to evolve surgeons’ understanding of these genes and their role in cancer growth. These advancements have revealed other genes that, in addition to BRCA 1 and 2, increase the risk of breast cancer.

For some patients, a genetic test is a good way to understand their risk. The decision to have genetic testing should be informed by genetic counseling. Meeting with a genetic counselor helps patients develop the appropriate testing strategy and understand what the results of their tests might mean. This genetic counseling is also a coverage requirement for some insurance plans.

Cyr is qualified to offer genetic counseling for breast cancer screening through her completion of the Intensive Course in Genomic Cancer Risk Assessment at City of Hope in Los Angeles. This Continuing Medical Education course, offered by an NCI-designated Comprehensive Cancer Center, heightened and reinforced Cyr’s expertise, helping her “translate rapid advances in genetics and genomics into cancer risk assessment, management and prevention practice.”

“The test is simple,” Cyr states. “The difficult part is interpreting the results. Negative results don’t necessarily mean a woman is not at an elevated risk of breast cancer, because there are other factors that might put her at risk. On the other hand, testing positive for any of the genes does not automatically mean the patient is going to develop breast cancer—or even be at an elevated risk.”

It is because of this complexity that patients seek out Cyr’s expertise.

What can patients do with their results?

Prophylactic surgery, like the bilateral mastectomy Jolie had, is one option. The operation greatly reduces a woman’s risk of developing breast cancer, but is also a deeply personal choice that has to be made by the patient. Cyr wants women to know that this is not their only option for breast cancer prevention. While it may be the right choice for some, there are alternatives: “Anti-estrogen medication is another option if the risk factors are hormonal,” Cyr says. “Reducing alcohol use and managing a healthy weight are other preventative measures a woman can take. Surgery is an option, but I want to make sure patients know it is not a requirement.”

Gateway to the Best in Patient Care

Cyr always imagined herself living near an ocean. As a true Midwesterner, raised in Omaha, Neb., Cyr dreamt of escaping cold Nebraskan winters and spending time at the beach. After receiving her medical degree at University of Nebraska School of Medicine in Omaha, Cyr did just that by moving to Wilmington, N.C., where she completed a residency in General Surgery at New Hanover Regional Medical Center. She then worked as a general surgeon, where she began seeing breast cancer patients.

“As I saw more patients, I realized how important working in breast health was to me,” Cyr reflects. To become a specialist in breast health, Cyr began looking at fellowships. “I didn’t want to like fellowship programs in the Midwest,” she admits. “I’ve lived on both coasts, and I love being by the ocean. I never thought I would end up back in the Midwest.”

Amy Cyr, MD, is proud to dedicate her time to patients who may be at high risk of developing breast cancer.

Ultimately, Cyr was drawn to Washington University School of Medicine in St. Louis for the quality of its fellowship program. Cyr completed a fellowship in Breast Surgical Oncology at the School of Medicine 10 years ago, then joined the faculty as an Assistant Professor of Surgery.

Although St. Louis is not coastal, it has become home to Cyr, who runs in Forest Park, appreciates the architecture and activities the city has to offer, and has formed lifelong bonds in the region. “We’re pretty spoiled here,” Cyr says. “Except for the winter.”

More than anything, Cyr appreciates the level of patient care she is able to provide here.

“I like being able to sit down with a patient and work through things,” she says. Working closely with her patients is something she has found especially valuable at the School of Medicine. Cyr says that she gets to see her patients throughout their screening and care, and that forming these bonds is an important part of her practice.

“When I was in medical school, my father was diagnosed with cancer,” Cyr says. “I remember sitting in the waiting room with my family on a Saturday while he was in surgery. The surgeon came out and sat with us. She explained the operation and told us how my father was doing. I remember how reassuring it was to have someone take time out of her schedule to be with us.”

Cyr hopes to help more women know their risk and understand their prevention options by offering her time and expertise.