When Your Genetic Test Reveals A Cancer Risk

Stefanie Ecuyer was not going to let her family’s medical history get the best of her.

She was adopted at birth and went through most of her life not knowing her family history, until she took a DNA test that connected her to her birth parents.

“I have children, and my medical history is important to me,” the 56-year-old Houston homemaker said.  When she reunited with her parents in 2018, Stefanie quizzed them about the health of her relatives and was struck by their many references to cancer.  She shared this news with her OBGYN, Dr. Ferenc Markos of Baylor St. Luke’s Medical Group and St. Luke’s Health – The Woodlands Hospital.

Dr. Markos said, ‘That doesn't sound good. It sounds like you need a gene test,' Stefanie recounted.  The BRCA gene test found a gene mutation called CHEK2, which carries a significantly increased lifetime risk for breast and kidney cancer. 

True to the test, Stefanie was diagnosed and treated for kidney cancer in 2020.  Now that the risk predicted by the genetic test had become reality, she didn’t know which way to turn.  “I didn't know - am I supposed to go in and get a double mastectomy like [actress] Angelina Jolie did?”   

Her primary care physician, Dr. Sam Rolon of Baylor St. Luke’s Medical Group, referred her to Medical Oncologist Dr. Angela Coscio at St. Luke’s-The Woodlands.

“Dr. Coscio eased my mind. She said she would watch me more closely now. And that's what happened,” Stefanie said. She underwent frequent mammograms that routinely required a follow-up ultrasound.  So many questionable mammograms raised a red flag to Dr. Coscio, who then ordered a breast MRI in late 2021.

“Sure enough, the mammograms and ultrasounds didn’t show it, but the MRI showed a carcinoma,” Stefanie explained.  It was Stage 1 invasive lobular carcinoma, a type of cancer that develops in the milk-producing glands of the breast.  

“Lobular breast cancer is a subtype that can be more difficult to diagnose at an early stage due to being more difficult to see on a mammogram,” Dr. Coscio explained.  “However, it is a very treatable type of cancer when diagnosed at early stages.  Depending on the stages and biological markers, like the more common ductal breast cancer, it may require chemotherapy, hormone therapy and/or radiation therapy.”

Dr. Coscio ordered three months of chemotherapy and a cold cap to minimize hair loss.

“Dr. Coscio prepared me for the side effects.  She’s the kind of doctor that when she walks in the room, she sits down in a chair and pulls it right up to you so you're having a conversation, like you're talking to a friend,” Stefanie said. In 2023, she underwent a double mastectomy and reconstructive surgery, a 14-hour surgery. 

All totaled, Stefanie underwent five surgeries in two years at Baylor St. Luke’s Medical Center downtown with most of her doctor's appointments at St. Luke’s-The Woodlands.  

She is cancer-free today and not letting up on her medical vigilance.  “Invasive lobular carcinoma is a type that shows up again even after the five-year mark,” Stefanie said.

According to Dr. Coscio, patients with any breast cancer diagnosed before the age of 50, more than one breast cancer in the same patient, breast cancer in the patient and one close family member, a known cancer gene in the family, triple negative breast cancer, or a patient with breast cancer and unknown biological family history should discuss genetic evaluation with their doctor.

Stefanie described the risk of cancer as “a dark shadow looming over your head, but it really is one day at a time,” she said.  She finds strength by talking with other cancer survivors and attending breast cancer retreats and events. “I talk with them – we get each other and we’re making lifelong bonds,” she said.

 “I feel very blessed to have received such a high level of care here. Everybody talks about Houston's Medical Center, but I live in such a great place that I have the same expertise and same medical care that they do. I recommend everyone to St. Luke's Health. It's just a great hospital.”

At a breast cancer luncheon at St. Luke’s–The Woodlands, Stefanie expressed her appreciation to Dr. Coscio.  When a speaker told cancer survivors that they represented the flowers in the floral bouquets they were making, Stefanie replied, “If we are the flowers, then Dr. Coscio is my gardener.”