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Inherent Gene Mutation Causes Lynch Syndrome

By: Kathy Hubbard

“I recently got genetic testing, and I tested positive for Lynch syndrome, which runs in the family,” said a young man named Zach, who posted on the Centers for Disease Control and Prevention’s website. In his accompanying picture he looks to be somewhere in his early twenties, if that.

“Do the math,” he said, “my great-grandfather had colon cancer, so did my grandfather and my father and uncle, so while that helped me to prepare for the news that I had Lynch syndrome, it’s still a very bit of an eye-opener.”

The diagnosis of Lynch syndrome, which I’ll explain shortly, doesn’t necessarily mean that Zach will get cancer. What it means is that he has an elevated risk, and although each of his family members had colon cancer, he could be facing other cancers including those that happen in the stomach, pancreas, kidneys, bladder, ureters, brain, gallbladder, bile ducts, small bowel and skin. If he were female at birth, the risk would include ovarian and endometrial cancers.

Mayo Clinic says that Lynch syndrome is caused by genes that are passed from parents to their children. I’ll let them explain:

“Genes are pieces of DNA. DNA is like a set of instructions for every chemical process that happens in the body.

“As cells grow and make new cells as part of their lifecycle, they make copies of their DNA. Sometimes the copies have errors. The body has a set of genes that hold the instructions for finding the errors and fixing them. Healthcare professionals call these genes mismatch repair genes.

“People with Lynch syndrome have mismatch repair genes that don’t work as expected. If an error happens in the DNA, it might not get fixed. This could cause cells that grow out of control and become cancer cells.”

Lynch syndrome is an autosomal dominant condition. That means that only one parent needs to carry the mutated gene to pass it on to their children. If this is the case with your family, you should talk to your primary care provider about genetic testing.

Cleveland Clinic says that estimates show Lynch syndrome occurring in one in 279 people in the U.S. “An estimated 4,000 cases of colorectal cancer and 1,800 cases of uterine (endometrial) cancer result from Lynch syndrome each year.”

Like any disease, symptoms vary from person to person depending on the diagnosis. “People diagnosed with Lynch syndrome have symptoms similar to those of the cancers they cause, the most common being colorectal cancer.”

Knowing you have Lynch syndrome can raise a lot of questions. One thing to know is that you should have cancer screenings more often. Common tests are colonoscopy every one to two years, transvaginal ultrasound every one to two years, and urinalysis annually.

“If your healthcare provider detects cancer based on a growth of tissue (tumor) on your body, they might perform a biopsy, where they will remove a small sample of the tumor to examine the cells in a laboratory,” Cleveland says.

If stomach and/or small bowel cancer is possible, the medico will schedule an upper endoscopy or capsule endoscopy every three to five years.

“If I didn’t get tested, really it just leaves everything in the air and there are a lot more unknowns,” Zach said. “I had to deal with this. I had to get tested and start taking cautionary steps to help prevent any cancer in the future. I got my first colonoscopy over the summer, which wasn’t fun at all but it’s a necessary evil. It’s stressful but necessary to have to deal with – it’s stuff like that that’s tolerable. People should recognize everything that they can to help be preventative and to just take care of themselves, like eating healthy and being active. All that is important for any normal healthy person, but even more so when you know that you have this condition.”

And then he said something I thought was very insightful. He said, “The best thing I could have done for myself is get checked. Making sure you know what’s coming your way is the most important thing that you can do. The cons from knowing this at such a young age are completely blown away by all the benefits.”

Kathy Hubbard is a member of the Bonner General Health Foundation Advisory Council. She can be reached at kathyleehubbard@yahoo.com. This article was written for publication in the Bonner County Daily Bee on July 2, 2025.

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