In early 2021, the American Cancer Society released new guidelines lowering the screening age for colorectal cancer, which has been increasing in frequency in younger adults, from 50 to 45. This new guideline, paired with the pandemic delaying routine physicals, may have saved Justin Kelly’s life.
A nurse who lives in Portsmouth, New Hampshire, with his husband, Mike, and dog, Theo, Justin was nearly 46 when he saw his primary care physician in early 2022 for a physical, after skipping a few years during the pandemic. His doctor shared that “45 is the new 50” when it comes to colorectal cancer screenings and Justin, having no known family history or symptoms, opted for a stool-based test, which surprisingly came back positive. As these tests are not as sensitive as a colonoscopy, Justin and his doctor agreed to do a follow-up colonoscopy.
“I went and was expecting what my family members who had colonoscopies would have, which is a clear bill of health,” Justin recalls. “But the doctor came in as I was getting ready to go home and she told me I had a lesion, likely malignant; that they had taken a biopsy; and that we needed to get an oncologist and treatment team together as soon as possible.”
“It was a pretty big surprise,” he continues. “My doctor who did the colonoscopy told me that I wouldn’t have made it to 50 without coming to see her due to the advanced nature of the tumor. I’m really grateful the guidelines changed and that my doctor was aware. Even as a nurse, I hadn’t known the guidelines changed.”
Justin’s diagnosis was locally advanced rectal cancer—an early stage diagnosis in a disease so often caught too late. As a nurse, he sought out Dana-Farber as a “center of excellence,” as he says, where his oncologist, Matthew Yurgelun, MD, quickly ordered genetic testing to confirm a genetic mutation—a DNA mismatch repair Justin’s local physicians had identified in the pathology—and to test for other genetic indicators, including Lynch syndrome.
“I had heard of Lynch syndrome, but didn’t know much about it and never heard of anyone in my family having it, so I was quite surprised when it came back that I do indeed have Lynch syndrome,” Justin says. “That started a series of discussions with my family because I have three brothers and many nieces, nephews, and extended family who I want to make sure are aware of it.”
“Lynch syndrome tells us that someone has an increased risk of a future cancer, but knowing the risk is there, we can help mitigate it,” explains Yurgelun, Justin’s oncologist and director of Dana-Farber’s Lynch Syndrome Center, the only dedicated Lynch syndrome center of its kind in the country. “We think about 1 in 300 people have Lynch syndrome—or more than a million people in the U.S.—with most of them undiagnosed. When people have Lynch syndrome, we typically recommend annual colonoscopies. We have data that colonoscopies flat-out save lives for people with Lynch syndrome, by finding any precancerous polyps, removing them, and stopping a cancer before it even starts.”
Given Justin’s diagnosis and his DNA mismatch repair, he was eligible for treatment with the new immunotherapy drug dostarlimab, which targets the PD-L1 protein. Earlier in 2022, dostarlimab showed remarkable results in a small study—results Justin would soon see himself.
“I started this treatment in October and had a first set of scans before Christmas, which showed no evidence of disease,” Justin shares. “I then had a procedure in January where they took a look inside and they weren’t able to find any cancer at all. My plan is to continue this treatment for the full six months under the protocol and go into screening after that. I ended up being able to avoid surgery, radiation, and chemotherapy for now, and the associated side effects, which can be pretty dramatic for some people.”
“I had some fatigue, but I’ve been able to continue to work and keep up my family life,” he continues. “While this was a pretty big detour from how I was planning to spend 2022 and the beginning of 2023, I’m very grateful things fell into place for me the way they did.”
According to Yurgelun, many younger-onset colorectal cancer patients are presenting disproportionally with rectal cancer, like Justin, or cancers in the lower part of the colon. And when colorectal cancers demonstrate mismatch repair deficiency like Justin’s, that can be a big tipoff for Lynch syndrome, which is why Yurgelun recommended a genetic test to examine inherited DNA and to develop a personalized, effective care plan for Justin.
“We don’t yet know what this new immunotherapy looks like for people in the long term, but compared to the standard treatment, which usually includes a combination of chemotherapy, radiation, and surgery, this approach has been really exciting,” Yurgelun says. “The data so far has shown that people’s cancers can virtually go away, and often with very few side effects, and that’s exactly what we’ve seen with Justin. It’s what you’d hope for if you’re developing a perfect cancer treatment.”
While Justin had no known family history, Lynch syndrome can look different from family to family, Yurgelun says. Those who do have family histories should be referred for genetic testing to hopefully prevent future cancers—not only colorectal but uterine, ovarian, stomach, pancreatic, skin, and others. And although the new standard for colorectal cancer screening is 45, those who have Lynch syndrome may be screened as early as their 20s.
“It’s exceedingly important to know your family history,” Yurgelun says. “Justin didn’t know that he had Lynch syndrome, but now that is has been identified in his family, it can have a major impact for others in the family who can now get their own genetic testing and, if positive, begin colonoscopies far earlier than 45. These screenings save lives.”
“The earlier you get diagnosed in your journey, the better your treatment outcomes are,” Justin adds. “My story has motivated many family members, friends, colleagues to go get scheduled for screenings, whether coloscopies or others, and I hope I can help folks like me, who might be in this locally advanced stage, will be able to take advantage of the same innovations happening in health care.”
Help support patients like Justin by joining The Dana-Farber Campaign, our ambitious, multi-year fundraising effort to prevent, treat, and defy cancer. The Dana-Farber Campaign will accelerate the Institute’s strategic priorities by supporting revolutionary science, extraordinary care, and exceptional expertise. As a community, we have the power to create a more hopeful, cancer-free future—in Boston and around the world. Together, we can defy cancer at every turn. Learn more about The Dana-Farber Campaign and how you can get involved at DefyCancer.org.