Journal of Genetic Counseling

, Volume 21, Issue 4, pp 484–493 | Cite as

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. Weissman
  • Randall Burt
  • James Church
  • Steve Erdman
  • Heather Hampel
  • Spring Holter
  • Kory Jasperson
  • Matt F. Kalady
  • Joy Larsen Haidle
  • Henry T. Lynch
  • Selvi Palaniappan
  • Paul E. Wise
  • Leigha Senter
Professional Issues

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 

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Copyright information

© National Society of Genetic Counselors, Inc. 2011

Authors and Affiliations

  • Scott M. Weissman
    • 1
  • Randall Burt
    • 2
  • James Church
    • 3
  • Steve Erdman
    • 4
    • 5
  • Heather Hampel
    • 6
  • Spring Holter
    • 7
  • Kory Jasperson
    • 2
  • Matt F. Kalady
    • 3
  • Joy Larsen Haidle
    • 8
  • Henry T. Lynch
    • 9
  • Selvi Palaniappan
    • 10
  • Paul E. Wise
    • 11
  • Leigha Senter
    • 6
  1. 1.Center for Medical GeneticsNorthShore University HealthSystemEvanstonUSA
  2. 2.Huntsman Cancer InstituteUniversity of UtahSalt Lake CityUSA
  3. 3.Digestive Disease Institute, Cleveland Clinic FoundationClevelandUSA
  4. 4.Nationwide Children’s HospitalColumbusUSA
  5. 5.The Ohio State UniversityColumbusUSA
  6. 6.Arthur G. James Cancer Hospital and Richard J. Solove Research InstituteThe Ohio State University Comprehensive Cancer CenterColumbusUSA
  7. 7.Zane Cohen Centre for Digestive Diseases Clinical Research CentereMount Sinai HospitalTorontoCanada
  8. 8.Hubert H. Humphrey Cancer Center, North Memorial HealthcareRobbinsdaleUSA
  9. 9.Department of Preventative MedicineCreighton Hereditary Cancer CenterOmahaUSA
  10. 10.Hereditary Cancer ProgramNorthside HospitalAtlantaUSA
  11. 11.Vanderbilt Hereditary Colorectal Cancer RegistryVanderbilt University Medical CenterNashvilleUSA

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