An Argument for Colorectal Cancer Mismatch Repair Testing

Colorectal cancer (CRC) is the second leading cause of cancer-related death in the U.S. Despite the widespread use of colonoscopic screening, nearly 40% of CRC patients die from the disease. Lynch syndrome, an autosomal dominant condition caused by germline mutations in DNA mismatch repair (MMR) genes, is the most common type of familial CRC, accounting for up to 3% of all cases. Although clinical criteria — including the Amsterdam criteria and Bethesda guidelines — can identify families at risk for Lynch syndrome, no widely accepted screening strategy is currently used.

International investigators have now analyzed data pooled from four cohorts of newly diagnosed CRC probands to compare the performance of selected Lynch-syndrome screening s…