The guidelines for clinical practice for carriers of germline mutations in the Lynch syndrome predisposition genes MLH1, MSH2, MSH6, PMS2 and large deletions of EPCAM (4.2024)

Klin Onkol. 2024;38(5):384-389. doi: 10.48095/ccko2024384.

Abstract

The guidelines for clinical practice for carriers of pathogenic variants in clinically relevant genes predisposing to Lynch syndrome and colorectal cancer define the steps of primary and secondary prevention that should be provided to the individuals at high risk of developing hereditary cancer in the Czech Republic. The drafting of the guidelines was organized by the Oncogenetics Working Group of the Society for Medical Genetics and Genomics of J. E. Purkyně Czech Medical Society, in cooperation with representatives of oncology, oncogynecology, and gastroenterology. The guidelines are based on the current recommendations of the National Comprehensive Cancer Network (NCCN), European Society of Medical Oncology (ESMO) and take into account the capacity of the Czech healthcare system.

Keywords: MLH1; MSH2/EPCAM; MSH6; PMS2; consensus; germline mutation carriers; guidelines for clinical practice.

Publication types

  • Practice Guideline

MeSH terms

  • Colorectal Neoplasms, Hereditary Nonpolyposis* / genetics
  • Czech Republic
  • DNA-Binding Proteins / genetics
  • Epithelial Cell Adhesion Molecule* / genetics
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation*
  • Humans
  • Mismatch Repair Endonuclease PMS2 / genetics
  • MutL Protein Homolog 1* / genetics
  • MutS Homolog 2 Protein* / genetics

Substances

  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein
  • Epithelial Cell Adhesion Molecule
  • MSH2 protein, human
  • MLH1 protein, human
  • G-T mismatch-binding protein
  • EPCAM protein, human
  • Mismatch Repair Endonuclease PMS2
  • PMS2 protein, human
  • DNA-Binding Proteins