Volunteering for cancer research: an act of love
“If my mom was still alive, she’d be ecstatic over this.” Ben Jarvis’ voice is full of tenderness as he speaks about his mother, who died of ovarian cancer in 2016, years before his family learned that a BRCA gene mutation ran in the family—putting Ben and some of his siblings at a higher risk of developing certain cancers over their lives.
“This” is a first-of-its-kind clinical trial testing an experimental approach to stop cancer in its tracks at the earliest stages of development, before it’s even detectable by screening tests. Jarvis is one of 44 people from across the country who volunteered to participate in the study at Penn Medicine’s Basser Center for BRCA.
Maggie Gaines, another volunteer participant, is in awe of the “full-circle moment” the study represents. Her mother—already a breast cancer survivor—died of pancreatic cancer in 2002 at age 59. One of the last doctor appointments Gaines drove her to was for a clinical trial, but her mother’s “last hope” never materialized: She became too sick too quickly and passed away a few weeks after she was supposed to begin the study.
While most cancer clinical trials are designed for people like Gaines’ mother, who are actively facing cancer, Gaines and Jarvis are not cancer patients themselves. For them, coming from families where cancer runs deep, volunteering their bodies to help advance cancer research is an act of love.
BRCA and cancer risk
Everyone’s DNA contains the genes BRCA1 and BRCA2, but about 1 in every 200 people has inherited mutations in these genes that put them at a higher lifetime risk of developing breast, ovarian, prostate, and pancreatic cancers. Many people learn about their BRCA gene mutation status after a family member is diagnosed with cancer.
Jarvis’ family ties to BRCA didn’t come to light until he was 51 and his sister was diagnosed with breast cancer, three years after their mother died. After his sister learned she had a BRCA2 gene mutation, her care team offered free genetic testing to the rest of the family. That’s when Ben learned he has a BRCA2 gene mutation.
The news “changed my life,” he said, and set him on a path to take advantage of the best opportunities he could find to manage his cancer risk.
“I’m a huge believer in science,” Jarvis said. “Anything I can do to help increase knowledge and to hopefully lessen the risk for people like me that carry BRCA gene mutations, I’m all for it.”
Jarvis, who lives in Los Angeles, researched his options and joined a clinical trial at the National Institutes of Health (NIH) in Maryland testing a strategy using advanced MRIs to screen for prostate cancer in men with an elevated cancer risk. That research also led him to the clinical trial at the Basser Center for BRCA, where Executive Director Susan Domchek, MD, is spearheading the study that aims to stop cancer before it can start, based on the culmination of years of research.
Intercepting cancer
As Robert Vonderheide, MD, DPhil, director of Penn Medicine’s Abramson Cancer Center, explains, most cancers form slowly, like a smoldering fire. When the normal tissues first start to change, the cancer isn’t recognizable on scans. This clinical trial, he says, is trying a new strategy to find out, “Can we push the immune system toward recognizing these very early abnormal collections of cells that are not yet cancer, but are thinking about becoming cancer?”
That strategy involves using DNA medicine, developed with Philadelphia biotech company Inovio Pharmaceuticals, to train the immune system, specifically T cells, to recognize an enzyme called telomerase that’s involved in about 95 percent of human cancers. The goal is to intercept cancer, destroying abnormal cells before they grow into full-fledged cancer, almost like weeding a garden before it becomes overrun.
“As oncologists, we don’t want to have to give people chemotherapy, radiation therapy, or surgery, with all the side effects that come with treatment,” Domchek said. “While we’ve made great progress as a field, especially in treating breast cancer, we would love to not have people develop cancer in the first place. If we can offer a vaccine that significantly decreases cancer risk, it would be game-changing.”
The approach isn’t specific to the BRCA gene or to BRCA-related cancers, but the researchers decided to test it, first in patients with early-stage BRCA-related cancers, then in healthy BRCA gene mutation carriers without cancer, like Jarvis and Gaines, because of their outsized hereditary cancer risk.
Motivated by generations past, present, and future
Gaines first found her way to Domchek and the Basser Center in 2015 at age 42, shortly after moving to the Delaware Valley and learning she had a BRCA2 gene mutation. With Domchek’s counseling, Gaines decided to have two risk-reducing surgeries: a bilateral salpingo-oophorectomy (to remove her ovaries and fallopian tubes), which plunged her into early menopause, and a double mastectomy.
Had she not had genetic testing or opted for surgery, Gaines said, “I'm convinced that I would have had breast cancer in my 40s as my mother, my grandmother, and my grandmother’s sister all did.” Now 52 and nearing the age her mother was when she died, Gaines remains worried about the possibility of developing pancreatic cancer, and worried about her children’s future, if they turn out to have inherited the gene mutation from her. Still, she didn’t jump on the opportunity to join the clinical trial until she read a story about the study in the Philadelphia Inquirer.
“I saw other patients talking about their experience with the clinical trial, and why they were doing it, and I realized, ‘I need to just do this!’” she said.
Intercepting cancer before it develops
More than just prevention, Penn Medicine is pioneering cancer vaccines and defining the science needed to identify and halt cancer at its earliest stages.
Grateful to be part of science
After signing up for the study, Gaines and Jarvis both received their first dose of the investigational DNA vaccine in November 2024, returning in December, January, and February for a total of four doses, each one month apart, with blood tests two weeks after each shot. For Jarvis, that meant flying from LA to Philly and back eight times, something he felt was well worth the effort.
“I’m very fortunate to have a job, a husband, and a family that are all supportive of me taking time away to participate in medical research,” Jarvis said. “It takes people volunteering to move research forward. And I’m very, very glad that I was able to be in the position to do that.”
With enrollment of Phase I of the study now complete, Domchek and her team will continue to monitor the participants for two years to confirm safety and look for signals that the participants’ T cells are successfully recognizing telomerase. While it will take a larger, randomized study, with longer follow-up to find out if the strategy successfully intercepts cancer, the team is optimistic: “I think we’re closer than we realize,” Vonderheide said.
When Gaines received her final injection in February, Domchek and the clinical research team thanked her for being a part of the study, and Gaines erupted with gratitude right back.
“I said, ‘Are you kidding me?! Thank you for letting me be part of it!’ This feels like a real gift to me. I’m confident that by the time my children are old enough, they’ll have better options,” she said. “Maybe they’ll just get a vaccine and won’t even have to worry about cancer. That would be amazing.”
Editor’s note: The clinical trial described in the study has already completed recruitment and is no longer enrolling patients. See other currently enrolling BRCA-related clinical trials on the Basser Center website.