Lynch Syndrome: Further Defining the Pediatric Spectrum

Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome defined molecularly by the presence of a heterozygous pathogenic variant in one of the mismatch repair (MMR) genes:  MLH1, MSH2, MSH6, PMS2, or EPCAM. The incidence of LS in the general population is estimated at 1 in 279, with an even higher incidence in those with colorectal (1:35 or 3%) or endometrial cancer (1:56, 1.8%), the two most common Lynch-associated cancers [1]. Monoallelic pathogenic variants in MM R genes also increase an individual's risk for uterine, ovarian, stomach, urothelial, small bowel, pancreas, and biliary tract cancers.

Source: Cancer Genetics and Cytogenetics - July 25, 2021 Category: Genetics & Stem Cells Authors: Chelsea Self, Alexandra Suttman, Kami Schneider, Lindsey Hoffman Source Type: research