Geneticist traces gene mutation linked to colon cancer

? Mr. and Mrs. George Fry, one of them the originator of a mutated gene linked to colon cancer, sailed from England to the New World about 1630, shortly after the Pilgrims.

Almost 400 years later, a former Boise resident found the genealogy connecting the Frys to family branches in Utah and New York – a tie that researchers had been trying to make for about 20 years.

“I actually had the ‘ah ha’ moment and danced around,” said Deborah Neklason, a geneticist at the University of Utah’s Huntsman Cancer Institute. “I was so excited.”

The breakthrough has garnered national attention and emphasizes the possibility of knowing more about our health through the study of genealogy and family medical history, experts say.

“The real importance of this kind of study is that it combines genealogy with genetic testing,” said Greg Hampikian, professor of genetics at Boise State University. “We can better identify who should be tested for particular diseases. You’ll actually know who the high-risk group is. They’ll know which test to take.”

Colorectal cancer is the third leading cause of cancer deaths in the United States, according to the American Cancer Society. About 153,760 new cases were diagnosed in 2007, and 52,180 people died, the society estimated.

Neklason, a 1983 Boise High School graduate, and other researchers confirmed the mutation in the two families by blood tests, and linked it through genealogy to the Frys, the only connection between the New York and Utah branches.

The genetic mutation has not been found anywhere else in the world besides America, she said.

Researchers found 13 other families in Texas, Nebraska, Washington, Michigan, Wisconsin and Vermont with the same mutation in the adenomatous polyposis coli gene, which can lead to polyps, giving carriers a 69 percent chance of colon cancer by age 80, she said. Carriers who are at risk may or may not develop precancerous polyps but will have a close relative who had an average of 40 polyps.

Because of the many generations between the founders of the mutation and their descendants in Utah and New York, more families throughout the United States may be carriers of the gene, she said.

“The neat thing is we’ve been working with both of these families for many years,” Neklason said. “We can track how many cancers link into this family. We believe there are many other families out there.”

People should consider their family medical history and look into their genealogy, but screening is the key to prevention, she said.