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Inherited cancer mutation is widespread in America
Date:4/17/2008

COLUMBUS, Ohio A gene mutation responsible for the most common form of inherited colon cancer is older and more common than formerly believed, according to a recent study.

The findings provide a better understanding of the spread and prevalence of the American Founder Mutation, a common cause in North America of Lynch syndrome, a hereditary cancer syndrome that greatly increases a persons risk for developing cancers of the colon, uterus and ovaries.

The same investigators discovered the mutation in 2003. That research identified nine families with the mutation and concluded that a German immigrant couple brought the mutation to North America in 1727.

The latest study includes an additional 32 families and indicates that the mutation is actually about 500 years old, suggesting that it arose several generations earlier in Europeans or perhaps in Native Americans.

Of the 41 families overall, most are clustered in Kentucky, Ohio and Texas.

Scientists at the Ohio State University Comprehensive Cancer Center and Creighton University conducted the study, published recently in the journal Cancer Research.

The increased age of the American Founder Mutation means that it is significantly more prevalent in the United States than previously thought, says principal investigator Albert de la Chapelle, a researcher with Ohio States Human Cancer Genetics program.

Of interest is that this mutation has not been found in Europe, which is tentative evidence, along with hints from family histories, that it may have arisen in a Native American.

The new study estimates that the mutation is present in 32,150 Americans as compared with the earlier figure of 18,981. But these numbers are theoretical and need to be substantiated by further work, de la Chapelle notes.

This is an important public health concern, de la Chapelle says, because individuals with a Lynch syndrome mutation can benefit from earlier and more frequent cancer surveillance.
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Contact: Darrell E. Ward
darrell.ward@osumc.edu
614-293-3737
Ohio State University Medical Center
Source:Eurekalert

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