New hereditary cancer mutation found -- arrived with a German immigrant almost three centuries ago

Columbus, Ohio Scientists have combined genetic testing with genealogical detective work to discover and trace the source of an unusual gene mutation. That mutation apparently was brought to the United States at least 13 generations ago by a German immigrant, and it may be responsible for a sizeable portion of certain hereditary cancers in Americans.

People with this mutation are at high risk for developing cancer of the colon, endometrium and ovaries. The condition is known as hereditary nonpolyposis colon cancer, or HNPCC.

The mutation is not normally revealed by using typical genetic testing methods. However, the researchers have developed a relatively simple and inexpensive test that detects its presence.

The findings are published in the February 11 issue of the Journal of the American Medical Association. The study represents a collaboration among researchers at Creighton University Medical Center, The Ohio State University Comprehensive Cancer Center Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, and Leiden University and Erasmus University Medical Center, both in the Netherlands.

"Our challenge now is to determine how common this mutation is in the United States," says Albert de la Chapelle, co-director of the OSU Comprehensive Cancer Center's Molecular Biology and Cancer Genetics Program and a co-author of the paper. "The good news is we have a simple way of detecting it, and we are now devising strategies to comb the nation for this mutation."

So far, the scientists have identified 566 individuals in nine families who are descendents of that one early immigrant. Of these, 137 have undergone genetic counseling and testing so far. The tests showed that 44.5 percent (61 of the 137) carry the genetic mutation and should therefore receive regular check-ups for colorectal, endometrial and ovarian cancer.

"Knowledge about this mutation will help us identify more hi

Contact: Darrell E. Ward
Ohio State University

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