Use of genetic testing for colorectal cancer may increase screening rates

Boston, MA (October 17, 2002) Individuals with a genetic predisposition for colorectal cancer (CRC) were more likely to be screened for the disease, according to a study presented at the American Association for Cancer Research's (AACR) first annual Frontiers in Cancer Prevention Research meeting. Those carrying the gene alteration were significantly more likely to undergo a colonoscopy (70 percent), compared to those who did not carry the risk-conferring gene alteration (22 percent) and individuals who declined testing (16 percent).

HNPCC is the most common form of inherited colon cancer, and affects at least one person per thousand. People with the HNPCC genetic mutation are encouraged to undergo colonoscopy screening every one to two years.

"Previous studies have indicated that genetic test results have a limited impact on cancer screening behavior," according to Chanita Hughes, Ph.D., assistant professor of psychiatry at the University of Pennsylvania, Philadelphia, and lead investigator of the study. "We were pleased our study found that the results of an HNPCC genetic test may actually motivate colonoscopy screening among those who test positive."

HNPCC is a condition that increases the risk of developing colon cancer and can be detected by genetic testing. Mutations in at least four genes are linked to HNPCC, and an estimated five to 10 percent of all colon cancer cases are believed to result from these mutations. People who carry one or more of the mutations have an 80 to 85 percent risk of developing colorectal cancer by age 75. Colon cancer resulting from HNPCC is diagnosed in people around age 45 (sometimes in people still in their 20s) much earlier than non-inherited forms of colon cancer.

Between 43 to 76 percent of high-risk individuals undergo genetic testing for colorectal cancer. There are three familial factors that determine whether patients should undergo genetic testing for colorectal cancer: three case

Contact: Aimee Frank
American Association for Cancer Research

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