title: Approach to Lynch Syndrome for the Gastroenterologist.
abstract: Lynch syndrome is an autosomal-dominant hereditary cancer syndrome. Mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are implicated in the pathogenesis of the syndrome through microsatellite instability (MSI) and a rapid adenoma-carcinoma sequence. The primary methodologies for diagnosis include clinical criteria (Amsterdam I/II, Revised Bethesda Guidelines), computational models, and genetic testing (MSI, immunohistochemistry, germline testing). Universal genetic testing of colorectal cancers has gained popularity as a method to identify high-risk individuals and to offer appropriate cancer surveillance, psychological reassurance, and family planning. Management includes short-interval surveillance with colonoscopy in those without colorectal cancer and colectomy for those with cancer. Long-term chemoprevention with aspirin may improve mortality.
authors.affiliation: Department of Internal Medicine, University of California, San Diego, 330 Lewis St., San Diego, CA, 92103, USA.
authors.forename: Quan M
authors.initials: QM
authors.lastname: Bui
authors.affiliation: Vatche and Tamar Manoukian Division of Digestive Diseases, David Geffen School of Medicine at UCLA, 100 UCLA Medical Plaza, Suite 205, Los Angeles, CA, 90095, USA.
authors.forename: David
authors.initials: D
authors.lastname: Lin
authors.affiliation: Vatche and Tamar Manoukian Division of Digestive Diseases, David Geffen School of Medicine at UCLA, 100 UCLA Medical Plaza, Suite 205, Los Angeles, CA, 90095, USA. wwho@mednet.ucla.edu.
authors.forename: Wendy
authors.identifier: 0000-0002-7590-4616
authors.initials: W
authors.lastname: Ho
mesh_terms: D000236:Adenoma / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control / Q000601:surgery; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D001241:Aspirin / Q000627:therapeutic use; D002277:Carcinoma / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control / Q000601:surgery; D003082:Colectomy; D003113:Colonoscopy; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control / Q000601:surgery; D053843:DNA Mismatch Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D019468:Disease Management; D055088:Early Detection of Cancer; D000072102:Gastroenterologists; D005820:Genetic Testing; D006801:Humans; D007150:Immunohistochemistry; D053842:Microsatellite Instability; D000070976:Mismatch Repair Endonuclease PMS2 / Q000235:genetics; D000070957:MutL Protein Homolog 1 / Q000235:genetics; D051718:MutS Homolog 2 Protein / Q000235:genetics; D013997:Time Factors
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; C094934:PMS2 protein, human; C497172:MSH2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; D001241:Aspirin
keywords: Colorectal cancer; Lynch syndrome; Microsatellite instability; Mismatch repair