DNA-Based Test Detects Presence of Colorectal Cancer

In studies, the test exhibited high sensitivity and specificity, and to date, each time the test was positive, a significant neoplasia, or tumor, was found during colonoscopy.

People with HNPCC have an 80% lifetime risk of developing colorectal cancer. Due to this high risk, they should be frequently screened. Because the new test, called PreGen-26, is conducted by analyzing DNA found in a stool sample, people with HNPCC syndrome and doctors who treat them now have a more convenient and noninvasive tool to help supplement currently available screening methods.

The PreGen-26 test identifies microsatellite instability (MSI), which is present in more than 90% of HNPCC colorectal cancers. MSI occurs as a result of defects in the genes that normally proofread and repair DNA after it is replicated, ultimately increasing the mutation rates and accelerating the progression of a benign tumor to a cancer. The Pre-Gen-26 test is not to be confused with predispositional tests that indicate a person's lifetime risk of developing colorectal cancer associated with HNPCC. The test was developed by Exact Sciences Corp. (Maynard. MA, USA).

"Launch of the PreGen-26 test for those individuals with HNPCC syndrome represents an important tool for this patient population and signifies our progress towards introducing genomics-based cancer screening options for the general, average-risk population,” said Don Hardison, president of Exact Sciences.


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