Genetic conditions play a role in colon cancer risk

Lynch Syndrome can be diagnosed through genetic testing.

SUNRISE, Fla. – More than 106,000 cases of colorectal cancer are expected to be diagnosed in the United States in 2022 and while screening is recommended beginning at age 45, some people need to start much sooner due to underlying genetic conditions.

When Cheri Prybyl went for her annual mammogram in 2018, the technician found her family history “interesting.”

“The technician, after I was done, said, ‘Wow there seems to be a lot of cancer on your mom’s side of the family — on the maternal side of the family.’ Have you ever thought about having genetic testing?” Prybyl said.

Genetic testing revealed Prybyl had a condition called Lynch Syndrome, which elevated her risk for a variety of cancers including colon cancer.

“If your parent has it, if you have a family member that has it, you have a risk of inheriting this condition where your genes, they just kind of, they’re unable to repair damages in your DNA,” said Dr. Brenda Jimenez, a gastroenterologist with Cleveland Clinic Weston.

While the risk of colon cancer by age 50 in the general population is well below one percent, in people with Lynch Syndrome, it’s 25 percent.

“It’s mentioned that approximately three to five percent of all colorectal cancers are secondary to Lynch Syndrome,” Jimenez said.

Having lost members of her family to colorectal cancer, Prybyl made sure everyone on her side of the family, including her own children got tested.

“I have the tools, I have the knowledge to be proactive and not say, ‘Oh, I’m not going to get this done right now. It’s not comfortable doing a colonoscopy but it’s preventive and it’s lifesaving,” she said.

Prybyl’s sister, niece and nephew and both of her daughters tested positive for Lynch Syndrome.

Her youngest daughter Rachel had an aggressive colon polyp removed at the age of 23.

“That really kind of shocked me that I need to be on top of scheduling my colonoscopies because this could potentially be scary if I don’t do this,” Prybyl said.

Lynch Syndrome also increases the risk of endometrial cancer, including cancer of the uterus and ovaries.


About the Authors:

Veteran journalist Kathleen Corso is the special projects producer for Local 10 News.

Kristi Krueger has built a solid reputation as an award-winning medical reporter and effervescent anchor. She joined Local 10 in August 1993. After many years co-anchoring the 6 p.m. and 11 p.m., Kristi now co-anchors the noon newscasts, giving her more time in the evening with her family.