Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024

Rachel Hodan, Samir Gupta, Jennifer M. Weiss, Lisen Axell, Carol A. Burke, Lee May Chen, Daniel C. Chung, Katherine M. Clayback, Seth Felder, Zachariah Foda, Francis M. Giardiello, William Grady, Susan Gustafson, Andrea Hagemann, Michael J. Hall, Heather Hampel, Gregory Idos, Nora Joseph, Nawal Kassem, Bryson KatonaKaitlyn Kelly, Ann Marie Kieber-Emmons, Sonia Kupfer, Katie Lang, Xavier Llor, Arnold J. Markowitz, Mariana Moreno Prats, Mariana Niell-Swiller, Darryl Outlaw, Sara Pirzadeh-Miller, Niloy Jewel Samadder, David Shibata, Peter P. Stanich, Benjamin J. Swanson, Brittany M. Szymaniak, Jeanna Welborn, Georgia L. Wiesner, Matthew B. Yurgelun, Mary Dwyer, Susan Darlow, Zeenat Diwan

Research output: Contribution to journalArticlepeer-review

Abstract

Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC). Hereditary syndromes associated with EC include Lynch syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome. This manuscript provides the latest recommendations from the NCCN Guidelines for Genetic/ Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric on the screening and management of EC in patients at high risk for these syndromes, as well as the advantages and limitations of multigene panel testing. This manuscript also describes recent updates to these guidelines regarding de-implementation of colon cancer screening in individuals with CHEK2 pathogenic/likely pathogenic variants, based on the most up-to-date evidence regarding the association between CHEK2 pathogenic/likely pathogenic variants and colon cancer risk.

Original languageEnglish
Pages (from-to)695-711
Number of pages17
JournalJNCCN Journal of the National Comprehensive Cancer Network
Volume22
Issue number10
DOIs
StatePublished - Dec 2024

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