Professional Issues

Journal of Genetic Counseling

, Volume 21, Issue 4, pp 484-493

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

  • Scott M. WeissmanAffiliated withCenter for Medical Genetics, NorthShore University HealthSystem Email author 
  • , Randall BurtAffiliated withHuntsman Cancer Institute, University of Utah
  • , James ChurchAffiliated withDigestive Disease Institute, Cleveland Clinic Foundation
  • , Steve ErdmanAffiliated withNationwide Children’s HospitalThe Ohio State University
  • , Heather HampelAffiliated withArthur G. James Cancer Hospital and Richard J. Solove Research Institute, The Ohio State University Comprehensive Cancer Center
  • , Spring HolterAffiliated withZane Cohen Centre for Digestive Diseases Clinical Research Centere, Mount Sinai Hospital
  • , Kory JaspersonAffiliated withHuntsman Cancer Institute, University of Utah
  • , Matt F. KaladyAffiliated withDigestive Disease Institute, Cleveland Clinic Foundation
  • , Joy Larsen HaidleAffiliated withHubert H. Humphrey Cancer Center, North Memorial Healthcare
    • , Henry T. LynchAffiliated withDepartment of Preventative Medicine, Creighton Hereditary Cancer Center
    • , Selvi PalaniappanAffiliated withCenter for Medical Genetics, NorthShore University HealthSystemHereditary Cancer Program, Northside Hospital
    • , Paul E. WiseAffiliated withCenter for Medical Genetics, NorthShore University HealthSystemVanderbilt Hereditary Colorectal Cancer Registry, Vanderbilt University Medical Center
    • , Leigha SenterAffiliated withArthur G. James Cancer Hospital and Richard J. Solove Research Institute, The Ohio State University Comprehensive Cancer Center

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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.

Keywords

Lynch syndrome Colorectal neoplasms Microsatellite instability Immunohistochemistry Practice guideline DNA mismatch repair Genetic testing Uterine neoplasms