Risk assessment and genetic counseling for Lynch syndrome – Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer

Spring Holter, Michael J. Hall, Heather Hampel, Kory Jasperson, Sonia S Kupfer, Joy Larsen Haidle, Maureen E. Mork, Selvi Palaniapppan, Leigha Senter, Elena M. Stoffel, Scott M. Weissman, Matthew B. Yurgelun

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

Identifying individuals who have Lynch syndrome involves a complex diagnostic workup that includes taking a detailed family history and a combination of various tests such as immunohistochemistry and/or molecular which may be germline and/or somatic. The National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer have come together to publish this practice resource for the evaluation of Lynch syndrome. The purpose of this practice resource was to provide guidance and a testing algorithm for Lynch syndrome as well as recommendations on when to offer testing. This practice resource does not replace a consultation with a genetics professional. This practice resource includes explanations in support of this and a summary of background data. While this practice resource is not intended to serve as a review of Lynch syndrome, it includes a discussion of background information and cites a number of key publications which should be reviewed for a more in-depth understanding. This practice resource is intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses, and other healthcare providers who evaluate patients for Lynch syndrome.

Original languageEnglish
Pages (from-to)568-583
Number of pages16
JournalJournal of Genetic Counseling
Volume31
Issue number3
DOIs
StatePublished - Jun 2022

Keywords

  • BRAF
  • Lynch syndrome
  • MLH1 methylation
  • colorectal neoplasms
  • germline testing
  • hereditary non-polyposis colorectal cancer
  • immunohistochemistry
  • microsatellite instability
  • mismatch repair
  • tumor genomic profiling
  • uterine neoplasms

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