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According to the researchers from Huntsman Cancer Institute
(HCI) at The University of Utah, a British married couple may be the ancestor of
hundreds of people alive today who are at risk for a hereditary form of colon
cancer.
The researchers made the discovery after they have studied two
large families, one in Utah and one in New York, that both
carry a specific genetic mutation responsible for increased risk of colorectal
cancer.
According to Deborah Neklason, Ph.D., a University of Utah
research assistant professor and leader of the study, the mutation causes a
condition called attenuated familial adenomatous polyposis (AFAP). Without
proper clinical care, people with the AFAP mutation have a greater than 2 in 3
risk of colon cancer by age 80, compared to about 1 in 24 for the general
population. Yet the cancer can be prevented with proper screening and care.
They managed to trace back the mutation and discovered that
the two families share common ancestors, a couple who came to America from England in the 1630s, about the
time of the Pilgrims.
“The fact that this mutation can be traced so far back in
time suggests that it could be carried by many more families in the United States
than is currently known,” says Deborah Neklason. “In fact, this founder
mutation might be related to many colon cancer cases in the United States.”
However, she explains, clinical recognition of AFAP can be
difficult because colon cancer develops on average in a person’s 50s and the
majority of sporadic, or non-hereditary, colon cancers occur after the age of
50.
“People need to talk with their family, learn their family
cancer history, and share this information with their doctors. Doctors need to
be aware of AFAP, recognize people at risk, and know the screening and
treatment protocols that can prevent colon cancer from developing,” Neklason
says.
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