title: [Diagnosis and treatment of Lynch syndrome].
abstract: Lynch syndrome (LS) refers to an autosomal dominant genetic predisposition to develop colon cancer or cancers or the uterine corpus, stomach, urinary tract, ovaries, small intestine, mammary gland or bile ducts at a young age. The predisposition to cancer is caused by a germline mutation in one of the genes of the mismatch repair (MMR) system. International recommendations suggest immunohistochemical analysis of tumor tissue from at least those having developed colorectal cancer or endometrial cancer at an age of less than 70 years. This would allow the selection of patients to be referred for gene testing as well as identification of mutation carriers, for whom a regular colonoscopy follow-up is arranged at an interval of 2 to 3 years.
authors.forename: Toni
authors.initials: T
authors.lastname: Seppälä
authors.forename: Kirsi
authors.initials: K
authors.lastname: Pylvänäinen
authors.forename: Laura
authors.initials: L
authors.lastname: Renkonen-Sinisalo
authors.forename: Jan
authors.initials: J
authors.lastname: Böhm
authors.forename: Teijo
authors.initials: T
authors.lastname: Kuopio
authors.forename: Heikki J
authors.initials: HJ
authors.lastname: Järvinen
authors.forename: Jukka-Pekka
authors.initials: JP
authors.lastname: Mecklin
mesh_terms: D003113:Colonoscopy; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D055847:Lynch Syndrome II / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*