[Diagnosis and treatment of Lynch syndrome]

Duodecim. 2016;132(3):233-40.
[Article in Finnish]

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.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Colonoscopy
  • Diagnosis, Differential
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Immunohistochemistry
  • Lynch Syndrome II / diagnosis*
  • Lynch Syndrome II / genetics
  • Lynch Syndrome II / therapy*