DNA-Based Test Detects Presence of Colorectal Cancer

A new DNA-based test is specifically designed to detect the presence of colorectal cancer in people with known or suspected hereditary nonpolyposis colorectal cancer (HNPCC), an inherited predisposition for 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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