Genetic/familial high-risk assessment: Colorectal, endometrial, and gastric, version 3.2024, NCCN Clinical Practice Guidelines In Oncology Guidelines


Authors: Hodan, R.; Gupta, S.; Weiss, J. M.; Axell, L.; Burke, C. A.; Chen, L. M.; Chung, D. C.; Clayback, K. M.; Felder, S.; Foda, Z.; Giardiello, F. M.; Grady, W.; Gustafson, S.; Hagemann, A.; Hall, M. J.; Hampel, H.; Idos, G.; Joseph, N.; Kassem, N.; Katona, B.; Kelly, K.; Kieber-Emmons, A.; Kupfer, S.; Lang, K.; Llor, X.; Markowitz, A. J.; Prats, M. M.; Niell-Swiller, M.; Outlaw, D.; Pirzadeh-Miller, S.; Samadder, N. J.; Shibata, D.; Stanich, P. P.; Swanson, B. J.; Szymaniak, B. M.; Welborn, J.; Wiesner, G. L.; Yurgelun, M. B.; Dwyer, M.; Darlow, S.; Diwan, Z.
Title: Genetic/familial high-risk assessment: Colorectal, endometrial, and gastric, version 3.2024, NCCN Clinical Practice Guidelines In Oncology
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. © JNCCN—Journal of the National Comprehensive Cancer Network.
Keywords: genetics; endometrial neoplasms; genetic predisposition to disease; practice guideline; oncology; risk assessment; colorectal neoplasms; colorectal tumor; diagnosis; medical oncology; genetic predisposition; genetic screening; stomach neoplasms; endometrium tumor; therapy; genetic testing; stomach tumor; neoplastic syndromes, hereditary; procedures; humans; human; male; female; hereditary tumor syndrome
Journal Title: Journal of the National Comprehensive Cancer Network
Volume: 22
Issue: 10
ISSN: 1540-1405
Publisher: Harborside Press  
Date Published: 2024-12-01
Start Page: 695
End Page: 711
Language: English
DOI: 10.6004/jnccn.2024.0061
PUBMED: 39689429
PROVIDER: scopus
DOI/URL:
Notes: Source: Scopus
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  1. Arnold J Markowitz
    139 Markowitz