A cancer mutation's Colonial roots

When Mr. and Mrs. George Fry landed on the shores of Massachusetts not long after the Pilgrims, they carried with them a secret that remained hidden for nearly four centuries.

Their genes harbored a quirk that would travel through 16 generations of Americans, leaving a legacy of colon cancer. Now a Utah scientist, herself a descendant of Mayflower voyagers and Benjamin Franklin, has discovered the Fry family history.

In an example of crack scientific sleuthing, the University of Utah researcher and colleagues mined a trove of cancer records and a sprawling genealogical archive to uncover the source of a genetic mutation responsible for a rare form of colon cancer. Modern-day genetic fingerprinting identified far-flung relatives with this defect, and the team then traced the family tree back in time, past the Revolutionary War, to find their common ancestors.

They finally arrived at Weymouth, when colonists were only beginning to stake their claim to a new land. There, they found the Frys, who had decamped from their home in Somerset, England, sometime between 1624 and 1640, harboring hopes and the seeds of disease.

The search was driven by more than historical curiosity, specialists say. The work shows the power of genetics and genealogy to identify family members who share mutations so that they can be spared from a potentially deadly disease.

Already, the discovery, detailed last week at the national meeting of the American Chemical Society, appears to be saving 21st-century lives. Physicians have tracked down distant relatives of the Frys and offered those who have the mutation testing for early signs of colon cancer and preventive treatment. The result: cases of the kind of colon cancer spawned by the mutation have nearly vanished in Utah.

"The point is, there are hereditary components to diseases and you need to be aware of what your family history is," said Dr. Daniel Chung, clinical director of the Gastrointestinal Cancer Genetics Program at the Massachusetts General Hospital Cancer Center. "And it's just kind of a cool story that they can trace this mutation back."

The detective story began more than a decade ago, when University of Utah scientists discovered that members of a Utah family battling colon cancer carried a specific mutation in a gene know by the acronym APC.

"Over about the next 10 years," said Deb Neklason, a molecular geneticist at the university's Huntsman Cancer Institute and a Mayflower descendant, "they brought in tons and tons of family members to try to figure out who had the genetic change." Those who did had colonoscopies performed to look for cancer.

At the same time, a doctor in upstate New York was treating patients from a family harboring the same genetic profile.

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