Recent advances in Lynch syndrome

Fam Cancer. 2019 Apr;18(2):211-219. doi: 10.1007/s10689-018-00117-1.


Lynch syndrome is one of the most common hereditary cancer predisposition syndromes and is associated with increased risks of colorectal and endometrial cancer, as well as multiple other cancer types. While the mechanism of mismatch repair deficiency and microsatellite instability and its role in Lynch-associated carcinogenesis has been known for some time, there have been significant advances recently in diagnostic testing and the understanding of the molecular pathogenesis of Lynch tumors. There is also an increased awareness that the clinical phenotype and cancer risk varies by specific mismatch repair mutation, which in turn has implications on surveillance strategies for patients. Even the treatment of Lynch-associated cancers has changed with the addition of immunotherapy for advanced disease. This progress report aims to review some of the many advances in epidemiology, molecular pathogenesis, diagnosis, clinical phenotype, cancer surveillance, treatment, and chemo- and immune-prevention strategies in the Lynch syndrome field over the past 5 years.

Keywords: Cancer genetics; Hereditary cancer syndromes; Lynch syndrome.

Publication types

  • Review

MeSH terms

  • Antineoplastic Agents, Immunological / therapeutic use*
  • Chemotherapy, Adjuvant / methods
  • Chemotherapy, Adjuvant / trends
  • Colectomy / methods
  • Colectomy / trends*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / epidemiology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / therapy*
  • DNA Mismatch Repair / genetics
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Genetic Testing / trends*
  • Humans
  • Microsatellite Instability
  • Mutation
  • Phenotype
  • Prevalence
  • Randomized Controlled Trials as Topic
  • Treatment Outcome
  • Watchful Waiting / methods
  • Watchful Waiting / trends*


  • Antineoplastic Agents, Immunological