George Frey, a British immigrant in the 1600s, brought his family, his belongings and, unbeknownst to him, a colon cancer genetic mutation to America.
Researchers at the University of Utah discovered a strong familial disposition to colon cancers in Frey’s descendants. Through the use of family history records of The Church of Jesus Christ of Latter-day Saints to define relationships among two separate links of Frey’s family, one in Utah and one in New York, a “founder mutation — one traced from many people in the present-day population back to a common ancestor” — was uncovered.
“The fact that this mutation can be traced so far back in time suggests that it could be carried by additional families in the United States,” explains Deborah Neklason, a genetics research professor at the Salt Lake City university.
Neklason is among researchers at the university who have successfully linked genetic disposition to cancer through the use of family history records. Her work with a mutation called attenuated familial adenomatous polyposis (AFAP) indicates that individuals with this mutation have a 2 in 3 risk of colon cancer by age 80, compared to 1 in 24 for the general population.
According to Dr. Lorris Betz, senior vice president of health science and CEO of the University of Utah health system, other scientists at the university have also discovered the first genetic breast cancer mutation, a gene mutation for melanoma, a susceptibility gene for prostate cancer, and a dozen or more relatively rare diseases, most with multiple genetic defects.
“Our researchers and clinicians excel in their areas of expertise,” notes David Jones, senior director of early translational research at the university’s Huntsman Cancer Institute. “Translational research spans the entire process of making fundamental basic science discovery in the laboratory, analyzing its implications and developing practical applications clinicians can use to benefit patients.”
Such dedicated and innovative research funds the hope of the Huntsman Cancer Institute that cancer and other diseases may be managed more effectively or even eradicated.