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Genetic mutation, most common in Ashkenazi Jews, more than doubles cancer risk

Note: This release has been updated since its original posting.

A genetic mutation, most often found in people descended from Ashkenazi Jews, can double or even triple the risk of colorectal cancer, according to new data from an international study published in the Sept. 20 issue of Science.

The relationship between mutations in a gene called BLM and increased susceptibility to colorectal cancer was discovered independently by two teams of scientists who analyzed DNA from nearly 3,100 people of Ashkenazi Jewish ancestry living in northern Israel and New York City. The mutation is found in about one percent of individuals descended from a closely related ethnic group, called Ashkenazi Jews, who formerly lived in Eastern Europe.

When this mutation is inherited from both parents, it causes a serious disorder called Bloom syndrome, which greatly increases an individuals predisposition to cancer, said Stephen B. Gruber, M.D., Ph.D., director of clinical cancer genetics at the University of Michigans Comprehensive Cancer Center and first author of the Science paper.

Until now, carriers of one mutant copy were thought to have no increased cancer risk. But our data show that people who inherit the mutation from just one parent face a two- to three-times greater risk for colorectal cancer, Gruber added.

The Israeli data in the Science paper are the first to be published from the Molecular Epidemiology of Colorectal Cancer (MECC) study a collaboration between Gruber and Gad Rennert, M.D., Ph.D., of the Technion-Israel Institute of Technology Faculty of Medicine and Carmel Medical Center in Haifa, Israel. Rennert also directs the Clalit Health Services National Cancer Control Center in Israel and is the corresponding author of the Science paper.

New York data for the study were collected independently by scientists at Memorial Sloan-Kettering Cancer Center working under the direction of Kenneth Offit, M.D., and Nathan A. Ellis
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Contact: Sally Pobojewski
pobo@umich.edu
734-615-6912
University of Michigan Health System
19-Sep-2002


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