Genetic Testing for Breast Cancer Reveals Rare Disorder

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An odd lump on Elizabeth Cowles Johnston’s breast prompted a Friday morning call to her primary care physician Rebecca Andrews at UConn Health.

Dr. Andrews quickly fit her in, and upon checking the lump sent her to Dr. Alex Merkulov, Section Head of Women’s Imaging at the Beekley Imaging Center at UConn Health for a mammogram and ultrasound.  The following Monday she had a biopsy of her breast and by that Wednesday she had the diagnosis of breast cancer.

“It was all very quick,” says Johnston.

To determine the stage of her breast cancer, Dr. Susan Tannenbaum, chief of the Division of Hematology and Oncology in the Department of Medicine and the clinical director of the Carole and Ray Neag Comprehensive Cancer Center at UConn Health, ordered a PET Scan and was surprised to find a concerning spot on her lung. The lung cancer was early and not related to breast cancer, which means it hadn’t spread from the breast.  It was determined she was stage 3 breast cancer and that was the biggest concern for Tannenbaum as she put together a treatment plan for the breast cancer.

Tannenbaum suggested genetic testing because of the two separate cancers.   Johnston was diagnosed with Li-Fraumeni syndrome (LFS). LFS is rare and associated with a tumor-suppressor gene, known as TP53. The resulting protein is rendered useless and unable to help prevent tumors from developing.

At 37, Elizabeth was older for the LFS diagnosis, typically diagnosed in children and young adults and makes them most susceptible to developing several multiple cancers, most notably soft-tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma, and acute leukemia. Other cancers seen in LFS patients include gastrointestinal cancers and cancers of the lung, kidney, thyroid, and skin, as well as in gonadal organs (ovarian, testicular, and prostate.)

Diagnosed with a genetic disorder, Elizabeth did not hesitate to have her two young children tested right away.  They each had a 50/50 chance of inheriting the gene, and it was a huge relief when they were both determined not to have it.

“Jennifer Stroop was our genetic counselor at UConn Health and she was so good about explaining everything to me and my family in a way it made sense and helping my extended family with the genetic testing process,” says Johnston.

Individuals with LFS have an approximately 50% chance of developing cancer by age 40, and up to a 90% percent chance by age 60, while females have nearly a 100% risk of developing cancer in their lifetime due to their markedly increased risk of breast cancer. Many individuals with LFS develop two or more primary cancers over their lifetimes.

“I now have a team of incredibly smart people all working together for me,” says Johnston who following her diagnosis was referred by Tannenbaum to Dana-Farber’s Cancer Genetics and Prevention specialists at its Li-Fraumeni Clinic.

Johnston underwent six rounds of chemotherapy, a bi-lateral mastectomy, a lung wedge resection, followed by radiation.

Johnston was the first patient that Tannenbaum and Dr. Dana Scott, Breast Health, and Cancer Genetics Specialist at the high-risk clinic at the Neag Comprehensive Center had treated.  “They both were open to researching and creating new protocols for my care and connecting with specialists as needed,” says Johnston.

Johnston is currently cancer-free, however, has to be vigilant and assertive about her health, often having to educate other doctors about her LFS.

It has been widely accepted that early cancer detection can greatly increase overall survival, and those diagnosed with LFS should seek to adhere to preventive screening. Johnston has to undergo regular screenings including colonoscopy, lung scans, dermatology check, blood draws, and five different MRIs.

Johnston participated in a clinical trial at Dana-Farber for whole-body MRI scanning that allows doctors to look at the entire body in one examination without radiation exposure.

“The team at UConn Health has been so proactive about the research and protocol for this,” says Johnston.

“We are thrilled that we are almost ready to launch whole-body MRI for screening for our Li-Fraumeni patient,” says Tannenbaum. “Dr. Leo Wolansky, Chair, Department of Diagnostic Imaging, and Therapeutics has been instrumental to us having this option.”

It’s been five years since her diagnosis and Johnston has an amazing outlook. “Everyone’s experience and how they got there is different,” she says.

She doesn’t get what is known as “scanxiety” because she believes that knowing her genetics and understanding LFS, she has control over her decisions.   “You can’t change what the result will be from the scan,” says Johnston.  “It’s important to know what we have control over and what we can do about it.”

Mental health has been an important part of Johnston’s recovery and her outlook on life.

Throughout the treatments, Dr. Tannenbaum was concerned about the mental health of Johnston and her family, checking in on them regularly and referring Johnston to a therapist from the cancer center.

Proactive testing has helped Johnston from a mental health perspective so there is no “what if.”

Johnston’s advice to others is to be aware of what is happening with your own body including the importance of paying attention to your mental health.

Patients can schedule a screening mammogram without a referral online.  For more information visit UConn Health or the Carole and Ray Neag Comprehensive Cancer Center.

Author: Admin