Elizabeth Murphy’s diagnosis of stage 3 invasive ductal carcinoma breast cancer left her in disbelief. She was 23 years old, working with children with autism and on the verge of starting graduate school. But, if her breast cancer diagnosis was a surprise, what came next was a shock wave — and one that her team deftly managed thanks to the coordination between cancer treatment and genetics at the Cancer Early Detection and Diagnostics Clinic at Mass General Cancer Center’s Waltham location.
“When my biopsy came back as cancer, the Mass General team was like, ‘We’ll see you tomorrow,’” says Elizabeth. “They told me I was way too young for this to happen, and they knew something else was going on.”
As part of the program’s multidisciplinary approach, Elizabeth underwent genetic testing that revealed a rare mutation — affecting about one in 200,000 people — in her PTEN gene. That gene provides instructions for making an enzyme that is found in almost all tissues in the body. The enzyme acts as a tumor suppressor, which means that it helps regulate cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way. Elizabeth’s mutation meant that she was at risk for more than the breast cancer already in her body. She was also at risk for endometrial, colon and thyroid cancer.
Beverly Moy, MD, MPH and the team at Mass General considered this knowledge to be power over Elizabeth’s potential illnesses. They had what they needed to come up with a plan.
“Dr. Moy said to me on my first visit, ‘You and I are going to grow old together,’” Elizabeth says. “She’s been with me through it all. In that first appointment, you’re so overwhelmed, so to have someone like that at your side is awesome.”
Combining Cancer Evaluation and High-Risk Genetics
The Cancer Early Detection and Diagnostics Clinic at the Mass General Cancer Center in Waltham prioritizes a comprehensive approach to ensure that all patients have the latest treatment options for cancer risk management and early detection, including novel technologies and genetic methods for newly diagnosed cancer patients. In Elizabeth’s case, the specific genetic makeup of her mutation had never been recorded before, so her genetic counselor took extra time to run the results and explain them to Elizabeth.
“What I appreciate most about this model is our expedited access to top experts in cancer evaluation and high-risk genetics,” Dr. Moy says. “It provides the best quality care for patients like Elizabeth, since she has a coordinated approach in managing her complex cancer screening and detection needs.”
Elizabeth underwent 17 rounds of chemotherapy and 25 rounds of radiation to treat her breast cancer. She also had surgery to perform a double mastectomy with reconstruction and remove 24 lymph nodes.
“Since my cancer was already spreading to my lymph nodes, the fact that the team jumped on it so quickly saved my life,” Elizabeth says. She was diagnosed on April 27, 2021, and her first chemotherapy infusion was a few days later on May 4.
“When I met with Dr. Moy, she said, ‘I’m throwing everything at you. You’re way too young to have to deal with this long term. I’m looking to cure you,’” Elizabeth continues. “I really appreciated her because she told everything to me straight. She told me it was going to be a very intense regimen of chemo, but it was going to stop the cancer from progressing and metastasizing. It was a huge game changer that made the difference between whether we were going to cure this or whether I was going to be dealing with it for the rest of my life.”
“Their priority is to take care of you.”
To manage her risk of developing other cancers, Elizabeth has an endometrial biopsy once a year, a thyroid scan once a year and a colonoscopy every three years. She finished her active treatments for breast cancer in April 2022 and is on an oral medication to lessen her chances of a recurrence. Elizabeth also picked up her graduate school dream again: she is about to graduate from Boston College with a master’s degree in social work, only a summer behind her planned timeline.
At 23, Elizabeth often felt isolated when it came to her cancer experience — there weren’t many other young adults going through what she was. To share her experience, she participated in Mass General’s cancer mentorship program and connected with a 32-year-old who lives with the same genetic mutation. Elizabeth also hopes to volunteer with pediatric cancer patients once she finishes school.
“I want others to know that they’re not alone in this,” Elizabeth says. “Finding a patient community is huge. I tell people to ask every single question that comes into your brain, because you’re not the first person to ask this question — the doctors here have heard it all. And, at the end of the day, their priority is to take care of you.”
To learn more about how to support the Cancer Early Detection and Diagnostics Clinic, please contact us.
