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

, Ph.D. When the scientific teams discovered they had complementary results, they decided to publish jointly in one paper.

Although the mutation can be detected with DNA analysis, Gruber stressed that it is too soon for DNA tests to be used as a screening tool or a guide to treatment. Before a discovery like this can move into patient care, others must confirm the findings, Gruber said.

Colorectal cancer is the leading cause of deaths from cancer in Israel and the second leading cause of cancer deaths in the United States. Over 2,000 people are diagnosed with colorectal cancer in Israel each year, but incidence rates vary widely among different ethnic groups. Nearly 150,000 U.S. residents were diagnosed with colorectal cancer in 2002.

A companion paper in the same issue of Science, by researchers at the University of Cincinnati, showed that transgenic laboratory mice designed to carry the human BLM mutation have the same increased risk of cancer.

The results show the value of combining molecular genetics with traditional epidemiology in cancer research according to Rennert, who chairs the Technions department of community medicine and epidemiology and directs the MECCs field research in Israel.

Most genetic studies are based on a small number of samples from one hospital or one laboratory, but the problem is the researcher doesnt see the whole picture that way, Rennert said. The only way to evaluate the real importance of a finding is to measure it in the general population. In the MECC study, we include every person in a defined geographic area with colorectal cancer. Then we find a control subject without colorectal cancer who matches each patients demographics as closely as possible. This is extremely difficult to do, but it takes the bias out of your sample and gives you reliable data.

Rennert and Grubers goal is to understand the interactions between genetic and environmental factors involved in colorectal canc
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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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