Groundbreaking Research in Colorectal Cancer Prevention On Track to Save More Lives

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Cancer research doesn’t always travel in a straight line.

There are often twists and turns, new discoveries and unexpected results that can lead to valuable information that will save lives.

This has been the case with the Ohio Colorectal Cancer Prevention Initiative (OCCPI) of The Ohio State University Comprehensive Cancer Center – James Cancer Hospital and Solove Research Institute. This statewide program has tested more than 2,000 colon cancer patients from 50 Ohio hospitals to determine if they have Lynch Syndrome.

Lynch Syndrome is a mutation of one of four genes. If a person has Lynch Syndrome, there’s a very high chance they will develop colorectal, uterine, ovarian or gastric cancer. What this means is these people have a ticking, cancerous time bomb in their genes that will eventually explode.

“But, if you find people with Lynch Syndrome before they develop cancer, you can take the proper precautions and save lives,” said Heather Hampel, MS, LGC, associate director of the Division of Human Genetics of the OSUCCC – James and leader of OCCPI.

The goal of the OCCPI is to determine which Ohio colon cancer patients have Lynch Syndrome, and then test their relatives to see which ones have this inherited genetic mutation so they can benefit from life-saving intensive cancer surveillance.

To date, the OCCPI has tested 2,190 colon cancer patients, and Hampel and her team found that 75 of them had Lynch Syndrome. The team is still in the midst of testing the relatives of these 75 colon cancer patients, but, so far, they have already determined that 48 of the relatives have Lynch Syndrome.

These 48 people will now undergo a colonoscopy every year or two starting at age 20 to 25. These screenings are used to detect pre-cancerous polyps, which can then be removed before they become cancerous.

The number of people on this preventative regimen will likely increase as the OCCPI tests more relatives of patients with Lynch Syndrome. Think of this as Part I of how the OCCPI is saving lives.

Rachel Pearlman, a genetic counselor at the OSUCCC – James recently presented Part II – the unexpected findings – at the 19th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA) in Baltimore.

“Old data said that 8.4 percent of the colon cancer patients under the age of 50 had Lynch Syndrome,” Hampel said.

The new data – collected by the OCCPI – shows that 14.8 percent of the 311 colon cancer patients under the age of 50 they tested have either Lynch Syndrome (8.6 percent of the patients) or another type of hereditary cancer syndrome that can lead to breast, ovarian or pancreatic cancer or melanoma (6.2 percent).

“These are very important findings,” Hampel said, adding that the percentage of colon cancer patients with a genetic syndrome other than Lynch was also higher than expected. “It shows that a much higher percentage of those under 50 who get colon cancer get it for hereditary reasons and this has a huge impact on their siblings and children.”

This validates the importance of the OCCPI program and shows that doing it on a national scale will save hundreds, perhaps thousands, of lives.

“And another takeaway is that anyone under the age of 50 who has colon cancer, and doesn’t have Lynch Syndrome, should undergo a wider panel of genetic testing that includes more than just the known colorectal cancer susceptibility genes,” Hampel said.

Advances in technology have led to next-generation genetic sequencing that can look for multiple genetic mutations all at once at a much lower cost.

Pelotonia, a grassroots bike tour that raises money for cancer research, has provided $4.5 million in funding for the OCCPI program, and the team has received free genetic testing from Myriad Genetics Laboratories and discounted genetic testing from the University of Washington.

The OCCPI testing also found a possible link between Lynch Syndrome and the breast cancer genes BRCA1 and BRCA2. This led Hampel to wonder if having the breast cancer gene increases the rate of colon cancer, and if there is a link between the two diseases.

“I think the incidence is high enough that we need to refer all cancer patients under the age of 50 for genetic testing,” Hampel said.

The work of the OCCPI is another example of the advantages and advances possible at a comprehensive cancer center affiliated with a major cancer hospital.

Dr. Albert de la Chapelle of the OSUCCC – James did much of the groundbreaking research that led to the discovery of the mutated genes that cause colon cancer. He brought Hampel to Ohio State in 1997 and they led the push to create the OCCPI.

The Population Sciences team led by Electra Paskett provides education and a personalized prescription for colorectal cancer screening to all Lynch Syndrome patients and their close relatives. The team also works closely with colon cancer patients who do not have the syndrome.

“Anyone with a parent or sibling with colon cancer is two to three times more likely to get it,” Hampel said, adding regular screenings of this population group will save even more lives.

OSUCCC – James researchers have already begun to utilize the data collected by the OCCPI.

“Thanks to our study patients, we have a large resource of data and samples that will stimulate research for years to come,” Hampel said.

Her goal is to save even more lives by using the results of the OCCPI to create a national program that tests all colon cancer patients for Lynch Syndrome and other genetic mutations that lead to cancer. An estimated 600,000 to 1 million people in the United States have Lynch Syndrome, but less than 10 percent have been tested and diagnosed.

“It’s an uphill battle, but we’re determined to get there,” Hampel said. “The more we know, the more lives we can save.”