An immigrant couple who came to America from England about 1630, are suspected to be the ancestors of thousands of people living today who have a much higher risk of a hereditary form of colon cancer. US scientists have traced a so-called “founder genetic mutation” inherited by two large families of their descendants who currently live in Utah and New York state. Thousands of other descendants throughout the country may have the same mutation as the couple’s descendants moved westward and onward over the suceeding generations.
“The fact that this mutation can be traced so far back in time suggests it could be carried by many more families in the United States than is currently known,” says Deborah Neklason, who led the study. “In fact, this founder mutation might be related to many colon cancer cases in the United States.”
The Utah branch of the family, numbering about 5000 people today, was first focused on 14 years ago because its members had an unusually high risk of colon cancer, yet the group showed an unusually low rate of smoking, which is one of the known causes of the cancer. Because the family was Mormon, the researchers were able to mine a wealth of genealogical information from detailed church records. The mutation inherited by the Utah and New York families causes a condition called attenuated familial adenomatous polyposis (AFAP), which makes people more prone to developing polyps that can cause colon cancer.
The study did not give the family name(s) of the 17th century ancestors, however it issued this warning:
Without proper treatment, people with this mutation have a greater than two in three risk of developing colon cancer by age 80, compared to about 1 in 24 for the general population. Early treatment, however, can virtually eliminate this risk.
“This study highlights that you need to pay attention to your family history,” Neklason said. “With intervention to remove the polyps, the risk goes to near nothing.” (New Scientist)
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