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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
  • Princess Margaret Cancer Centre
  • Ohio State University
  • Ambry Genetics
  • University of Chicago
  • North Memorial Health Cancer Center
  • University of Texas MD Anderson Cancer Center
  • University of Michigan, Ann Arbor
  • Genome Medical, Inc.
  • Brigham and Women's Hospital
  • Variantyx, Inc
  • Chicago Genetic Consultants, LLC.

Research output: Contribution to journal › Article › peer-review

26 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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

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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