Radically Reducing the Risk

For Breast Cancer, Genetic Testing Provides Options

If you were a young woman with an 85 percent chance of developing breast cancer, what would you do? What if removing both healthy breasts would reduce your risk to only five to 10 percent?

For Kristi Szekely of Xenia, who had such frightening odds, the answer was easy. “It was a no-brainer,” this healthy 31-year-old says. “I had a double mastectomy.”

Kristi’s grandmother and her grandmother’s twin both had breast cancer, a disease predicted to kill more than 450,000 women worldwide this year. Her grandmother also developed ovarian cancer. “I saw her go through it and decided I was going to do what I could to prevent that suffering from happening to me,” says Kristi, who chose Miami Valley Hospital for her March 2014 surgery. “I feel blessed that I had advance knowledge of a likely outcome and the chance to be proactive.”

“With cancer, knowledge is power,” says Melissa Roelle, MD, a surgeon specializing in high risk breast cancer. Kristi calls her “amazingly compassionate.”

“Knowing your chances for developing cancer and understanding the factors that increase those chances leads you to make an informed decision that’s right for you,” says Dr. Roelle. “That’s what Kristi did.”

According to the American Cancer Society, about five to 10 percent of breast cancer cases are thought to be hereditary, resulting directly from gene defects (called mutations) inherited from a parent. The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 and BRCA2 genes. Genetic testing revealed a mutation in her BRCA1 gene.

“With her family history and test results, Kristi had about an 85 percent chance of developing breast cancer,” says Dr. Roelle.

“When I first heard my numbers, I was devastated and scared to death,” Kristi says.

“I discussed all options with her, including increasing the frequency of screenings,” says Dr. Roelle. “We also discussed ‘chemoprevention,’ using a medication that may help reduce the risk of developing cancer. As an example, in a high risk breast cancer patient such as Kristi, we had an option of using Tamoxifen, an estrogen blocker which may reduce a woman's risk of developing breast cancer.

“By far, a bilateral mastectomy is the most aggressive tool we have,” continues Dr. Roelle. “That’s what Kristi opted for. Her chances now of developing breast cancer are five to 10 percent.”

Her BRCA1 gene mutation also puts Kristi at a 40 percent risk of developing ovarian cancer. To avoid that possibility, she is considering having her ovaries removed after she and her husband, Coleman, have a child.

Kristi calls plastic surgeon Jason T. Hedrick, MD, who performed her breast reconstructive surgery, “a perfectionist,” and she’s pleased with the results. “Newly shaped breasts are formed from either implants or by creating breasts from ‘tissue flaps’ extracted from another part of the patient’s body,” Dr. Hedrick says. “Studies show that reconstructive surgery helps a woman’s state of well-being following the mastectomy.”

In a scenario typical for reconstruction, Dr. Hedrick started the reconstructive work during Kristi’s bilateral mastectomy and after a few months of healing, finished the process in other procedures. “I am so impressed by Kristi’s bravery and forthrightness in discussing what she was facing and why she chose the path she did,” Dr. Hedrick says.

“I know if my grandmother had been fortunate enough to have the medical technology we have today, she would have taken whatever preventive action was available,” Kristi says.

She is grateful for the support she’s received from most family members and friends. “But please don’t ask me if I was influenced by Angelina Jolie,” Kristi says good-naturedly. “These tough decisions aren’t made because of some celebrity.”

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