Learning he has Lynch syndrome empowered him to be proactive about his health

Leslie Cantu

March 27, 2025

a man in a blue pullover to represent colon cancer poses in a garden setting — Learning he has Lynch syndrome was a shock, but the knowledge has enabled Carson Thomas to take steps to manage his increased cancer risk. Photo by Clif Rhodes

When Carson Thomas signed up for In Our DNA SC, the last thing he expected was to learn he was at higher risk for certain cancers.

“I was more interested in the ancestry and personality traits,” he said.

He had just seen his wife, Lara Lambert, M.D., through a stage 3 colorectal cancer diagnosis, and, because of her, he got his first colonoscopy as soon as he turned 45, the recommended age to start colorectal cancer screening.

It came back clean.

So when Lambert suggested they participate in In Our DNA SC, a community health research project at the Medical University of South Carolina, he figured, “Why not?”

The project offers free genetic screening to any South Carolinian over the age of 18 to look for three genetic conditions: hereditary breast and ovarian cancer risk due to BRCA1 or BRCA2 mutations; Lynch syndrome; and familial hypercholesterolemia, which leads to high levels of the ‘bad’ cholesterol.

MUSC researchers want to use the information to understand more fully how these diseases develop and how treatment can be more precisely targeted.

Only 1% to 2% of participants are expected to be identified with one of the three conditions being screened for, so most people will get an email with insights into their ancestry, genetic traits – like how much sleep you need, whether you like cilantro and how quickly you metabolize caffeine – and an all-clear for the screened conditions.

Thomas, however, got a phone call.

“It was MUSC calling to let me know I had a genetic mutation – MSH2. And I was like, ‘Oh, OK. What is that?’"

Thomas was one of the 1 out of 279 people in the U.S. with Lynch Syndrome. Mutations in mismatch repair genes, like MSH2, mean that their cells can’t adequately fix DNA copying mistakes. Instead, the mistakes can pile up and lead to cancer.

People with Lynch syndrome have a higher risk of developing colorectal cancer as well as stomach, small intestine and liver cancer, among others, and, for women, a higher risk of ovarian and endometrial cancer.

Thomas was floored by the news. But with a wife and a father-in-law who are both physicians, he quickly learned all that he could about Lynch syndrome.

He was also connected with a genetic counselor at no cost, who then got him in to see Kevin Hughes, M.D., at the Hereditary Cancer Clinic at MUSC Hollings Cancer Center. The clinic helps people to manage their genetic cancer risks. That looks different for different people and different syndromes. Some may have more frequent screenings or additional screenings that aren’t recommended for average-risk people. Some may choose to have prophylactic surgery.

Thomas is on a schedule of yearly colonoscopies to check for colorectal cancer, every-other-year endoscopies to examine his stomach and regular urinalysis.

The Hereditary Cancer Clinic also works with family members of patients to ensure that they receive genetic testing to see if they’re also at risk. As it turned out, neither of Thomas’s parents tested positive for the genetic mutation that he has – instead, it was a rare de novo (spontaneous) mutation.

He’s adapting to his new reality.

“Nobody ever wants to hear that they have a genetic mutation associated with Lynch syndrome, but I'm very glad that I know,” he said. “I think knowledge is power in this case because now I'm in charge of keeping up with myself, the screenings. At least now I have a little bit of control.”

He’s also become active with AliveandKick’n, an advocacy and education organization for people with Lynch syndrome, and even ran the New York City Half Marathon this month with the group.

Thomas said that people should be aware of their genetics and get screened.

“Whenever I tell people I have Lynch syndrome – really, I've never met anybody other than my wife that knew what it was. It’s not really rare – 1 in 279 people have it. It's just rare that you know that you have it.”

“It's good to know your family history, to get genetic testing and then do the proper screening. Obviously, I’m at high risk for certain cancers, but I would rather be proactive and do the screenings. That way, if I do get cancer, I’m going to find out early rather than find out when I’m sick.”