Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline

J Genet Couns. 2012 Aug;21(4):484-93. doi: 10.1007/s10897-011-9465-7. Epub 2011 Dec 14.

Abstract

Identifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work up that includes taking a detailed family history and a combination of various genetic and immunohistochemical tests. The National Society of Genetic Counselors (NSGC) and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC) have come together to publish this clinical practice testing guideline for the evaluation of LS. The purpose of this practice guideline is to provide guidance and a testing algorithm for LS as well as recommendations on when to offer testing. This guideline does not replace a consultation with a genetics professional. This guideline includes explanations in support of this and a summary of background data. While this guideline is not intended to serve as a review of LS, it includes a discussion of background information on LS, and cites a number of key publications which should be reviewed for a more in-depth understanding of LS. These guidelines are intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS.

Publication types

  • Practice Guideline

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adenosine Triphosphatases / genetics
  • Antigens, Neoplasm / genetics
  • Base Pair Mismatch
  • Cell Adhesion Molecules / genetics
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • DNA Methylation
  • DNA Repair
  • DNA Repair Enzymes / genetics
  • DNA-Binding Proteins / genetics
  • Epithelial Cell Adhesion Molecule
  • Genetic Counseling*
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Immunohistochemistry
  • Microsatellite Instability
  • Mismatch Repair Endonuclease PMS2
  • MutL Protein Homolog 1
  • Nuclear Proteins / genetics
  • Proto-Oncogene Proteins B-raf / genetics
  • Societies, Medical*

Substances

  • Adaptor Proteins, Signal Transducing
  • Antigens, Neoplasm
  • Cell Adhesion Molecules
  • DNA-Binding Proteins
  • EPCAM protein, human
  • Epithelial Cell Adhesion Molecule
  • MLH1 protein, human
  • Nuclear Proteins
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • Adenosine Triphosphatases
  • PMS2 protein, human
  • Mismatch Repair Endonuclease PMS2
  • MutL Protein Homolog 1
  • DNA Repair Enzymes

Supplementary concepts

  • Lynch syndrome I (site-specific colonic cancer)