Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology

J Natl Compr Canc Netw. 2024 Dec;22(10):695-711. doi: 10.6004/jnccn.2024.0061.

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.

Publication types

  • Practice Guideline

MeSH terms

  • Colorectal Neoplasms / diagnosis
  • Colorectal Neoplasms / genetics
  • Endometrial Neoplasms* / diagnosis
  • Endometrial Neoplasms* / genetics
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing* / methods
  • Genetic Testing* / standards
  • Humans
  • Male
  • Medical Oncology / methods
  • Medical Oncology / standards
  • Neoplastic Syndromes, Hereditary / diagnosis
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / therapy
  • Risk Assessment / methods
  • Stomach Neoplasms / diagnosis
  • Stomach Neoplasms / genetics
  • Stomach Neoplasms / therapy