Genes May Be Key for Patients With Multiple Colon Polyps

TUESDAY, July 31 (HealthDay News) — A new study finds a strong
correlation between certain genes passed down through families and the
odds of multiple colon polyps discovered by colonoscopy.

The findings could point the way to deciding who will benefit from gene
testing when assessing risks for colon cancer, the study’s authors
said.

Two “germline mutations” — DNA changes passed down from parent to
offspring — are often implicated when multiple colorectal adenomas
(polyps) are found in people with a condition called familial adenomatous
polyposis, noted a team led by Dr. Shilpa Grover, of Brigham and Women’s
Hospital in Boston.

However, there is no consensus on when genetic testing for the two
genes, known as APC and MUTYH, should be done.

In the new study, published in the Aug. 1 issue of the Journal of
the American Medical Association
, Grover and colleagues looked at data
on almost 8,700 people who had undergone full genetic mapping between 2004
and 2011.

The researchers found that 80 percent of people with 1,000 or more
polyps also carried the APC mutation, whereas just 2 percent
carried the MUTYH mutation. Rates of the APC mutation were
also much more prevalent than MUTYH among people with between 100
and 999 polyps, the study found.

However, the rate of either of the mutations was similarly low
(estimated at 10 percent of patients or less) for people with fewer
adenomas (between 10 and 99 polyps).

The bottom line: The number of colorectal polyps a patient had “was
strongly associated” with the presence or absence of these genetic
mutations, the researchers said.

Based on the finding, the investigators reasoned that testing for
APC or MUTYH might be considered for anyone with 10 or more
polyps detected on colonoscopy. “However, our results are derived from a
selected cohort [group] of high-risk individuals and need to be validated
in larger populations of unselected patients,” the researchers added in a
journal news release.

Two experts said the information in the study was valuable.

“This study is important because it helps to correlate the number of
colon polyps with genetic testing for certain genetic abnormalities,” said
Dr. David Feldman, an attending physician at Beth Israel Medical Center in
New York City.

Familial adenomatous polyposis “causes many polyps and usually [when]
untreated leads to colon cancer before age 40,” he added. “The study’s
findings may be helpful in counseling people with familial adenomatous
polyposis and family members, and could lead to changes in the future in
screening for polyps in people with [the condition] and families of these
patients.”

Another expert cautioned, however, that it’s still too early for
concrete recommendations on genetic testing for patients at risk of colon
cancer.

“This study suggests that patients with 10 or more adenomas be
considered for genetic testing, [but] this recommendation needs to be
carefully considered in the context of the patient population evaluated in
this study and the potential positive or negative effects of genetic
testing,” said Dr. David Bernstein, chief of hepatology and acting chief
of gastroenterology at North Shore University Hospital in Manhasset, N.Y.

And Feldman noted that while many people will have a positive finding
of polyps on colonoscopy, familial adenomatous polyposis remains
relatively rare.

“Colon polyps are found commonly in people undergoing screening
colonoscopy. Up to 85 percent of people undergoing a screening colonoscopy
will be found to have colon polyps,” he said. “Less than 10 percent of
these patients found on screening colonoscopy will have familial
adenomatous polyposis. Most patients with colon polyps will have sporadic
polyps for which no genetic testing is currently available.”

More information

There’s more on familial adenomatous polyposis at the U.S. National Institutes of Health.

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