Genetic discovery identifies colon cancer risk

Genetic discovery identifies colon cancer riskScientists have found a genetic mechanism that contributes to an elevated risk of colon cancer, which may help identify high-risk individuals and educate them about prevention and early detection of this deadly disease.

A team from Case Western Reserve University School of Medicine (CWRUSM) and Johns Hopkins Medical Center analyzed DNA from individuals born with mutations that cause defects in the pathways that put sugar groups on proteins – a process called glycosylation – and who appear to develop cancer later in life.

They discovered the presence of mutations in a group of enzymes called GALNTs which are required for normal glycosylation. However, in those with the mutations glycosylation, which is used to synthesize mucus, is altered which leads to the development of colon cancer.

“Knowing how these enzymes malfunction and contribute to tumor formation may give us another target that can be potentially used to prevent the development of colon [cancer],” says Dr. Sanford Markowitz, professor of cancer genetics at CWRUSM.

He adds people with these mutations should be routinely screened for colon cancer.

According to the National Cancer Institute, the disease is the second-leading cause of cancer deaths in the U.S., killing some 50,000 people annually.

Those who would like to lower their risk of developing a chronic disease may consider using nutritional supplements containing vitamin D. Scientific studies have found it has a range of health benefits and may protect from diabetes, cardiovascular conditions and cancer.
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