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

In addition, he says, a simple, cheap genetic test can detect the mutation.

Lynch syndrome, also known as hereditary nonpolyposis colon cancer, is responsible for about one third of hereditary colon cancers, and almost 3 percent of colon cancer generally, or about 4,500 cases annually in the United States.

The initial study of nine families showed that the American Founder Mutation results in the loss of a very specific piece of a gene called MSH2 (although many other mutations also cause Lynch syndrome).

The new study linked 27 of the 41 families into seven groups through genealogic studies.

The age of the mutation was estimated using certain markers along the DNA located at either end of the mutation. Such patterns of markers are called haplotypes.

When a new person was identified for the study, the DNA on each side of the individuals mutation was tested for the markers, producing a shared haplotype. The shorter the shared haplotype, the older the mutation. This information led to the estimated age of 500 years.

This data pushed the original founder mutation back to around 1500, plus or minus a number of years, says coauthor Heather Hampel, a genetics counselor and researcher with Ohio States Human Cancer Genetics Program.

The Pilgrims began arriving in the 1600s, so the mutation could have arisen first in very early settlers from Europe, or in Native Americans.

Its unclear whether well ever learn who the first person was to have this mutation, Hampel says, but it is clear that the mutation is much older than we thought and probably more widespread. For that reason, we feel it is potentially a serious public health issue, particularly in states such as Kentucky, Ohio and Texas where it is very prevalent.


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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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