TY - JOUR
T1 - Genetic/Familial High-Risk Assessment
T2 - Colorectal, Endometrial, and Gastric, Version 3.2024
AU - Hodan, Rachel
AU - Gupta, Samir
AU - Weiss, Jennifer M.
AU - Axell, Lisen
AU - Burke, Carol A.
AU - Chen, Lee May
AU - Chung, Daniel C.
AU - Clayback, Katherine M.
AU - Felder, Seth
AU - Foda, Zachariah
AU - Giardiello, Francis M.
AU - Grady, William
AU - Gustafson, Susan
AU - Hagemann, Andrea
AU - Hall, Michael J.
AU - Hampel, Heather
AU - Idos, Gregory
AU - Joseph, Nora
AU - Kassem, Nawal
AU - Katona, Bryson
AU - Kelly, Kaitlyn
AU - Kieber-Emmons, Ann Marie
AU - Kupfer, Sonia
AU - Lang, Katie
AU - Llor, Xavier
AU - Markowitz, Arnold J.
AU - Prats, Mariana Moreno
AU - Niell-Swiller, Mariana
AU - Outlaw, Darryl
AU - Pirzadeh-Miller, Sara
AU - Samadder, Niloy Jewel
AU - Shibata, David
AU - Stanich, Peter P.
AU - Swanson, Benjamin J.
AU - Szymaniak, Brittany M.
AU - Welborn, Jeanna
AU - Wiesner, Georgia L.
AU - Yurgelun, Matthew B.
AU - Dwyer, Mary
AU - Darlow, Susan
AU - Diwan, Zeenat
N1 - Publisher Copyright:
© JNCCN—Journal of the National Comprehensive Cancer Network.
PY - 2024/12
Y1 - 2024/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85212976764&partnerID=8YFLogxK
U2 - 10.6004/jnccn.2024.0061
DO - 10.6004/jnccn.2024.0061
M3 - Article
C2 - 39689429
AN - SCOPUS:85212976764
SN - 1540-1405
VL - 22
SP - 695
EP - 711
JO - JNCCN Journal of the National Comprehensive Cancer Network
JF - JNCCN Journal of the National Comprehensive Cancer Network
IS - 10
ER -