Colon Cancer Gene Traced to Arrival in United States

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The MSH2 mutation was brought to Pennsylvania by a German immigrant couple in the early 18th century.

Neklason and her colleagues arrived at their discovery by studying two large families, one in Utah and one in New York, that carry the ACP mutation. The Utah family has more than 7,000 descendants in nine generations.

The researchers relied on family reports, the Utah Population Database, records maintained by the Church of Jesus Christ of Latter-day Saints (Mormons), as well as statewide cancer records in Utah and Idaho and Utah death certificates and birth certificates.

Family members underwent genetic analysis and colonoscopy data was available on 120 individuals within these families.

Both families were linked to the Fry family.

Because the couple came here so long ago, many more people than originally thought may carry the mutation. The researchers have identified 14 additional families in the United States who have the exact same mutation.

"They are almost certainly related. They all come off of this founder somewhere, but we don't know where, and we only have a glimpse," Neklason said. "We hope with this publication we're going to be able to find many families throughout the country that have the genetic change."

Current guidelines for detection of people with this mutation are murky and, Neklason estimated, may detect only about 87 percent of these people.

However, individuals can help their own cause.

"This stresses the importance of knowing your family history and your immediate family history," Neklason said. "The other big implication is that it's preventable, and that's the important part."

Current screening methods can detect precancerous polyps and remove them before they turn malignant.

More information

The Cleveland Clinic has more on attenuated familial adenomatous polyposis.