Researchers show new genetic mutation increases risk for colon cancer

NEW YORK, September 19 A newly-identified genetic marker increases the risk for colorectal cancer approximately three-fold in individuals born with this mutation, according to a study published in the September 20 issue of Science.

A team of scientists at Memorial Sloan-Kettering Cancer Center and the University of Michigan collaborated with colleagues in the United States and at the Carmel Medical Center/Technion University in Israel to test whether the mutation, called BLMAsh, plays a role in the development of cancer.

The investigators analyzed the frequency of BLMAsh mutations in 1,244 colon cancer patients from New York City and Israel, and compared this frequency to that observed in 1,839 healthy volunteers. Almost two percent of the patients with colon cancer were found to carry the mutation compared to less than one percent of the healthy individuals in the study.

"The interesting aspect of this study is the discovery of a possible novel pathway for colon cancer in humans, which had not previously been suggested in laboratory models," said Kenneth Offit, MD, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering, and senior author of the paper.

It was previously known that persons with mutations affecting both of their BLM genes were at increased risk for colon cancer. "However, this is the first study to show that individuals carrying a single BLM mutation are at increased risk for colon cancer," commented Nathan Ellis, PhD, Director of the Laboratory of Cancer Susceptibility at Memorial Sloan-Kettering and a lead author of the study.

In 1995, Dr. Ellis and colleagues cloned the BLM gene, alterations of which cause Bloom's syndrome, a rare genetic disorder associated with a predisposition to cancer. The current study focused solely on individuals of Ashkenazi Jewish origin because a single BLM mutation, BLMAsh, is most common in this group. About one in 100 healthy individuals of Ashkenazi ancestry carry the BLMAsh m

Contact: Esther Carver
Memorial Sloan-Kettering Cancer Center

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