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Researchers identify individuals at risk for developing colon cancer
Date:7/13/2009

A new study identifies a group of individuals at increased risk for developing colon cancer and holds the promise for developing new tailored cancer treatments. The study in this week's issue of the Proceedings of the National Academy of Sciences (PNAS) is by Sanford Markowitz, M.D., Ph.D., the Markowitz-Ingalls Professor of Cancer Genetics at Case Western Reserve University School of Medicine and oncologist at the Ireland Cancer Center of University Hospitals Case Medical Center, and colleagues.

"The bottom line is that we have found an uncommon but potentially important group of individuals who are born with certain genetic mutations and are at increased risk for developing colon cancer," says Dr. Markowitz, who is also an investigator in the Howard Hughes Medical Institute. "This is yet another step towards identifying who is at increased risk for this deadly form of cancer and it may potentially allow us a greater ability to detect and treat, as well as develop therapies, for cancer."

Dr. Kishore Guda, a postdoctoral fellow in Dr. Markowitz's laboratory, is lead author on the study. Dr. Markowitz's laboratory along with colleagues at Johns Hopkins Medical Center analyzed DNA from individuals who are born with mutations that cause defects in the pathways that put sugar groups on proteins. The normal process, called glycosylation, is used to synthesize mucus and is involved in many cellular activities. The individuals with this genetic defect appeared to develop colon cancer later in life. Data was from patients at UH Case Medical Center and Johns Hopkins.

A defect in glycosylation is a hallmark of many cancers, but the reason for this defect has been unknown. This study discovered the presence of mutations in a group of enzymes, called GALNTs, which are required for normal glycoslylation. These mutations contribute to alterations in the glycosylation process, and in turn, to the development of colon cancer.

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Contact: Alicia Reale
Alicia.Reale@UHhospitals.org
216-844-5158
University Hospitals Case Medical Center
Source:Eurekalert

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