Lynch syndrome

Abstract

Almost 100 years ago Lynch syndrome was discovered by Dr Aldred Warthin. Initially, the syndrome was named Hereditary Nonpolyposis Colorectal Cancer as colorectal cancer seemed most prevalent. Over time uterine cancer and several other malignancies were recognized as part of the spectrum. This autosomal-dominant inherited cancer syndrome is characterized by a defect in mismatch repair genes and puts patients at a significantly increased risk for colorectal and uterine cancer. Recognition and diagnosis of Lynch syndrome is extremely important so that appropriate screening programs and/or risk-reducing surgery can be initiated to prevent development or promote early detection of cancers.