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

Research output: Contribution to journalReview articlepeer-review

115 Scopus citations

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, gastroenterolo-gists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS.

Original languageEnglish
Pages (from-to)484-493
Number of pages10
JournalJournal of Genetic Counseling
Volume21
Issue number4
DOIs
StatePublished - Aug 2012

Keywords

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

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