Ina enjoys traveling, time with her two daughters, son-in-law, and granddaughters, reading, and taking ballet lessons at the Boston Ballet School. Her latest adventure recently took her to the Netherlands and Belgium for an all-ladies river cruise to see the tulips.
“Trips like that are great medicine too,” says Ina, who was diagnosed in 2020 at age 64 with a breast cancer recurrence.
“I developed a pain in my lower back and thought I had to strengthen my core,” Ina says. “I began physical therapy, but I eventually was in so much pain that I couldn’t sleep or eat. I couldn’t live this way.”
Eventually, an MRI revealed her breast cancer had returned. She had HER2-negative breast cancer, which is a cancer that lacks the human epidermal growth factor 2 (HER2) protein. The HER2 protein plays an important role in normal cell repair and growth.
Ina was referred to Ian Krop, MD, PhD, a former breast cancer physician-scientist at Dana-Farber Cancer Institute.
“I really just wanted the best help at this point,” Ina says.
Unraveling the genetic roots of breast cancer
Over twenty years ago, Ina was tested for mutations in the Breast Cancer susceptibility (BRCA) gene. The gene works by suppressing tumors and producing proteins that repair DNA damage to maintain healthy cells. When mutated, the gene leaves DNA unrepaired and puts the body at risk for cancer.
Ina did not have the BRCA gene mutation.
“I have two girls, so getting genetic testing was important for me and for them,” says Ina, whose mother died of breast cancer. “I was determined to find answers to my cancer.”
While seeking treatment at Dana-Farber, Ina’s 36-year-old daughter was also diagnosed with breast cancer in 2023. Her daughter’s genetic testing revealed she was positive for a checkpoint kinase 2 gene (CHEK2) mutation. CHEK2 instructs cells to make the CHK2 protein that spots damaged DNA and helps protect against cancer. At Dana-Farber, Ina was also tested for this gene. Results showed she carries the same CHEK2 gene mutation.
Individuals who inherit this gene mutation have a greater risk of developing cancers of the breast, kidney, bones, or thyroid. For women with this gene mutation, their risk of breast cancer doubles compared to women without it.
“This is so important because now we can do something about it,” Ina says. “It gives me the opportunity to try more personalized treatments.”
As a precaution, Ina’s second daughter is being treated at Dana-Farber’s Cancer Genetics and Prevention program. She is taking the oral medication tamoxifen to help block estrogen from triggering cancer cell growth.
When Krop was preparing to move to another healthcare organization, he introduced Ina to Filipa Lynce, MD, senior physician and director of the Inflammatory Breast Cancer Program. Ina describes this match as a “stroke of brilliance.”
“We see eye to eye on everything. I need a plan and she gives me one every time,” Ina says. “It gives me a great deal of comfort having her on my side.”
For two years, Ina was on palbociclib, an oral drug that targets cyclin-dependent kinases (CDKs). CDK4 and CDK6 are enzymes that play a role in the regulation of cell cycle and are vulnerable to alterations, fueling cancer. Generally, they receive a signal from the CHK protein to continue or stop pushing cell production. CDK4/6 inhibitors stop enzyme overactivity.
When Ina’s cancer became resistant to the drug, she enrolled in two clinical trials with targeted therapies sequentially to find a treatment that would overcome that resistance.
“Clinical trials give patients the opportunity to try novel therapies that could help patients like Ina today, while helping inform the treatment of patients in the future,” Lynce says. “As we learn about new treatments, we also see what works best for certain patients. In some cases, we need to shift gears and divert to other strategies.”
When Lynce did a ctDNA test—a blood test that analyzes tiny pieces of free-floating DNA that were shed into the bloodstream—she found a mutation in the PTEN gene. PTEN normally acts as a brake on cell growth. When PTEN is damaged or lost, the AKT pathway – or a series of unique molecular interactions in a cell – can become overactive, causing cancer cells to grow and survive more easily.
With this new information, Ina was started on capivasertib, an oral targeted therapy. The drug helps slow the growth of tumors driven by alterations in the AKT pathway. “I’m doing well, but I am still considering other options to see what else might work for me,” Ina says. “There’s a certain learning curve to this.”
Finding new options for metastatic breast cancer
The targeted therapy trastuzumab deruxtecan, an antibody-drug conjugate, has been approved by the FDA in several cases to treat metastatic breast cancer. Ina is now exploring this option with Lynce.
“More and more therapies are now becoming available to patients like Ina because of clinical trials from Dana-Farber research and around the world,” Lynce says. “We have a current plan and a future one for her.”
“Life is a gift, and I have a wonderful family and friends that I get to enjoy life with,” Ina says. “I have another trip to Switzerland and Germany to see the Christmas markets. I love to live my life to the fullest.”