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Researchers study rare genetic disease to tackle colorectal cancer

Colorectal cancer
Cancer – Histopathological image of colon carcinoid. Credit: Wikipedia/CC BY-SA 3.0

Researchers at the Mayo Clinic Comprehensive Cancer Center and the Mayo Clinic Center for Personalized Medicine are studying a rare genetic disorder called familial adenomatous polyposis (FAP). disease, the search for potential ways to prevent colorectal cancer is at an early, treatable stage in the general population. The researchers’ findings were published in Gut.

“Colorectal cancer is the third most common cancer in the United States, and the precursors to this cancer are polyps. It develops in the colon,” said Niloy Jewel Samadder, a gastroenterologist at the Mayo Clinic in Arizona. He said FAP is a rare genetic disorder that begins with the development of hundreds of colorectal polyps that can eventually become cancerous.

“The biological pathways that lead to the development of polyps and colon cancer in FAP patients are the same as those in the general population,” Dr. Samadder said. “Our trial looked at the opportunity to use chemopreventive agents to inhibit the development of small bowel and colorectal precancerous polyps in patients with FAP.”

Using the drug erlotinib, which blocks a specific cancer pathway called EFGR, led to a 30 percent reduction in the number of polyps that formed in the guts of FAP patients, researchers found.

“We are now investigating whether these findings can be extended to a wider population of patients with genetic or other risk factors that increase their chances of developing small bowel or colorectal cancer,” said Dr. Samad.

Further information: N Jewel Samadder et al. Weekly erlotinib dosing to reduce Phase II trial of duodenal polyp burden associated with familial adenomatous polyposis, Gut (2022) . DOI: 10.1136/gutjnl-2021-326532

Citation : Researchers study rare genetic disease To Tackle Colorectal Cancer (August 15, 2022), retrieved August 17, 2022, from

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