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Genetic discovery may lead to early colon cancer detection

A flexible scope reveals a polyp in a patient's colon  

In this story:

From Senior Medical Correspondent Dan Rutz

BALTIMORE (CNN) -- Researchers at Johns Hopkins University say a newly discovered genetic defect could help explain close to half of all cases of colon cancer and lead to earlier detection of the disease.

Colon cancer is the second leading cause of cancer death in the United States, although it is considered curable if detected early.

The disease, found in 360 Americans every day, typically leads to surgery, as in the case of New York Yankees star Darryl Strawberry, who missed playing in the World Series this year because of the disease.

Defect could serve as predictive test

The earlier the cancer is found, the less traumatic the operation required to cut away the growth, and the greater the chance of a cure.

With that in mind, researchers at Johns Hopkins University in Baltimore began looking for the earliest signs of trouble. They found a genetic defect.

"What's unusual here is that we see the same abnormality, not just in the cancer, but also in the normal tissue of the (patients with colon cancer)," said Dr. Andrew Feinberg.

The defect, which causes a gene to fail to keep cell growth in check, was present in four out of 10 colon cancer patients studied, as well as one out of 10 who never had cancer.

The researchers are now studying whether the presence of the defective gene greatly increases the chance of developing colon cancer.

"We need to do further experiments to find out whether or not (the defect) occurs before the cancer develops, in which case it could be used a predictive test," Feinberg said.

Flexible scope has limitations

Colon cancer ranks second only to lung cancer in fatal cancers in Western countries. In the United States, 56,000 people die from the disease each year.

The most practical screening device for colon cancer is a flexible scope. But the device reaches only the lower third of the bowel, and in about half of all cases the cancers originate higher up.

That limitation, plus the reluctance of many to undergo the uncomfortable examination procedure, reduces the chances of early detection.

"One of the great hopes we have for the future of genetics is that we might start to look at cancer as something we need to address even before you develop it," Feinberg said.

In the meantime, the American Cancer Society stresses that, even with its drawbacks, the flexible scope screening test can spare many an early death from colon cancer.

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