HNPCC Settles in America

Scientists combined genetic testing with genealogy to identify a cancer-causing genetic mutation brought to the U.S. by a German immigrant.

The mutation results in the loss of about one third of a gene known as MSH2. People with this mutation develop hereditary non-polyposis colorectal cancer (HNPCC) and have about an 80% risk of developing colorectal cancer at some point in their lives. Women with HNPCC are also at increased risk for ovarian and uterine cancer.

The researchers identified more than 500 individuals in nine families who descended from one German immigrant thought to have brought this mutation to the U.S. at least 13 generations ago. If you're of German descent and have had relatives die of colorectal, uterine, or ovarian cancer, you should consider talking with your doctor about genetic testing. You may carry the MSH2 mutation that causes HNPCC.

_{Source: Lynch, H. and Coronel, S. "A Founder Mutation of the MSH2 Gene and Hereditary Nonpolyposis Colorectal Cancer in the United States." Journal of the American Medical Association 291.6 (Feb. 2004): 718-724. 25 Aug. 2006 [http://jama.ama-assn.org/cgi/content/abstract/291/6/718].}