Screening for the Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)

The Lynch syndrome is hereditary nonpolyposis in patients with colorectal cancer. This diagnosis has implications for treatment and for the risk of cancer among family members. In this study of 1066 patients with newly diagnosed colorectal cancer, 23 patients and 52 family members were positive for Lynch syndrome mutations. Had the criteria of age and the presence or absence of a family history been used to select patients for genetic screening, many mutations would have remained undetected. In 1066 patients with newly diagnosed colorectal cancer, 23 patients (and 52 family members) were positive for Lynch syndrome mutations. Routine screening for hereditary nonpolyposis may be beneficial to patients and their family members. Large-scale screening for germ-line mutations that lead to the onset of disease in adulthood is becoming increasingly possible owing to technical advances. Even when screening is technically feasible, however, it does not necessarily follow that it is desirable. 1 Issues that affect screening include the accuracy, sensitivity, and specificity of the test, the benefit to the patient, the possibly negative ramifications of the results, and the cost. 2 One disease discussed as a plausible candidate for screening is the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 1 The Lynch syndrome is caused mainly by mutations in the DNA mismatch-repair genes MLH1, MSH2, MSH6, and . . .