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University of Cincinnati Academic Health Center
Publish Date: 09/16/02
Media Contact: AHC Public Relations, (513) 558-4553
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Genetics Researcher Coauthors Two Articles in the September 20 Science

Cincinnati--The September 20 issue of Science magazine, contains two different articles coauthored by Joanna Groden, PhD, associate professor, Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati (UC) College of Medicine and a Howard Hughes Medical Institute Investigator. Science is the magazine published by the American Association for the Advancement of Science (AAAS).

Dr. Groden is the senior author of one of the articles published in Science which reports on an increase in tumor formation in a genetically-engineered mouse model of an inherited disorder called Bloom syndrome. Clinical characteristics of Bloom syndrome include small stature, immunodeficiency, male infertility, and the predisposition to many types of cancer, most likely due to abnormalities in replicating and repairing DNA. Results of the experiments reported in Science show that mice which simply carry one mutated gene for this disease but who do not have the disease are more susceptible to tumor formation.

Another Science paper coauthored by Dr. Groden extends these findings with the mouse model to identify people at high risk for colon cancer. The mouse model suggested that humans who are carriers of Bloom syndrome may also be more at risk for cancer. This idea was tested in humans by looking at Ashkenazi Jewish individuals with and without colon cancer to measure the frequency of the mutant genes. Those who carry one mutant gene, called the BLM gene, have a two to three-fold increase in risk for colon cancer, she said.

"Discovering the risk factors for colon cancer is extremely important because it is a common cancer in both men and women of all ethnic backgrounds. The identification of genetic risk factors, such as this mutation of the BLM gene, which is carried by one in every 100 Ashkenazi Jewish individuals, can help us screen those people who might be more at risk for colon cancer. These studies also show how mouse models help us understand genetic risk factors for cancer."

According to Dr. Groden, inherited predisposition to human cancer can occur by one of two mechanisms. The first is by a mutation in one of the genes involved in the pathway to malignancy of a particular cell type. The second is by a mutation in a gene that controls the ability of a cell to replicate or repair its DNA and whose disruption consequently is associated with an increased mutation frequency throughout the genome.

Disruption of such genes can be recognized clinically by an increased incidence of a particular tumor type in affected individuals or by an increased incidence of many tumor types in affected individuals. The study of these individuals and their families has been instrumental in the identification of important genes that control cell growth directly or that function to maintain genomic stability.

Dr. Groden's work was funded by the National Institutes of Health, and the National Cancer Institute's Mouse Models of Human Cancer Consortium. She is the principal investigator of the mouse model center at UC, which is one of 19 in the U.S.

Dr. Groden received a PhD from Cornell University and did a postdoctoral fellowship in the Department of Human Genetics and the Howard Hughes Medical Institute at The University of Utah, 1989-1993. She has been on faculty at UC Medical Center in the Department of Molecular Genetics, Biochemistry and Microbiology since 1993.

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