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.