Understanding the genetic risk of cancer

Understanding the genetic risk of cancer

John Gustafson’s story goes back a dozen years, when his brother “stumbled upon” a large number of polyps in his colon while only in his late 30s. The cancer necessitated a complete colectomy and put the rest of the Gustafson clan on guard with screenings of their own.

On the recommendation of his primary care physician, Dr. Thomas Klarquist with Advocate Illinois Masonic Medical Center in Chicago, Gustafson underwent a colonoscopy screening in June 2012 with Dr. Andrew Albert.

“I knew I was overdue—it had been 10 years since I’d had one,” Gustafson says. “I wasn’t going in thinking there would be anything major.”

He said Dr. Albert found and removed a large number of polyps, recommending that he come back in six months for another screening. Six months later, in January 2013, Gustafson said nearly twice the number of polyps were found.

“Intellectually, I knew something had to be going on. I was afraid,” he says. Though Dr. Albert recommended surgery right away, Gustafson says, “I’m someone who needs to understand what’s going on. I needed to know why this was happening to me. I needed the facts. I needed to be certain that surgery was the right decision for me.”

Gustafson was referred to Melody Perpich-White, genetic counselor at the Creticos Cancer Center at Advocate Illinois Masonic. Melody sat down with him and talked through his family history, “spending three hours just going through everything with a fine-toothed comb,” Gustafson says.

Following genetic testing, it was discovered that Gustafson had MYH-associated polyposis (MAP), a hereditary condition that causes the development of colon polyps at a relatively young age—20s to 50s—and greatly increases the risk of colon cancer.

“The first time we met, Melody hit it right on the head,” Gustafson says. “This explained why my brother had so many colon polyps at such a young age. We were passed the mutation from both of our parents.”

According to Melody, both Gustafson’s parents were carriers of the MYH gene mutation, as they hadn’t developed colon cancer themselves.

“Only one to two percent of the population carries one mutation in this gene and you have to have a mutation from both parents to have the condition,” she says. “This determination led to a more complete surgery for Mr. Gustafson, to treat the colon burden and polyps.

This significantly reduces his risk for colon cancer. Without this information, he may not have been treated as aggressively, which could have lead to colon cancer.”

Knowing why the polyps occurred, he said he was much more comfortable undergoing the recommended colectomy, which was performed by colorectal surgeon, Dr. Joaquin Estrada.

“I saw the chain of events and how we got there,” Gustafson says. “It made me feel comfortable with my decision to have the surgery. Understanding was just as important as surgery for me.”

Gustafson says that, though there were some complications with the surgery, he is doing well and considers himself lucky. He’s back to work in his job as the national sales manager for a local hotel, though he’s tried to be a little less stressed by it and, for the time being, reduced the amount of travel he’s had to do.

“I still have healing to do, but I’m getting there, slow and steady,” he says. “It all comes from a place of knowing. I don’t think I would have recovered as well if I didn’t know what was going to happen and what to expect. I wasn’t so afraid.”

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One Comment

  1. Advances like this are what make medicine so fascinating and hopefully prevent a serious illness down the road. Thank you for sharing such an amazing story!

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health enews Staff
health enews Staff

health enews staff is a group of experienced writers from our Advocate Aurora Health sites, which also includes freelance or intern writers.