Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology
Rachel Hodan, Samir Gupta, Jennifer M. Weiss, Lisen Axell, Carol A. Burke, Lee-may Chen, Daniel C. Chung, Katherine M Clayback, Seth Felder, Zachariah H. Foda, Francis M. Giardiello, William M. Grady, Susan Gustafson, Andrea R. Hagemann, Michael J. Hall, Heather Hampel, Gregory Idos, Nora Joseph, Nawal Kassem, Bryson W. Katona, Kaitlyn Kelly, AnnMarie Kieber‐Emmons, Sonia S. Kupfer, Katie Lang, Xavier Llor, Arnold J. Markowitz, Mariana Moreno Prats, Mariana Niell‐Swiller, Darryl Outlaw, Sara Pirzadeh‐Miller, N. Jewel Samadder, David Shibata, Peter P. Stanich, Benjamin Swanson, Brittany M. Szymaniak, Jeanna Welborn, Georgia L. Wiesner, Matthew B. Yurgelun, Mary A. Dwyer, Susan Darlow, Zeenat Diwan
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.