Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

doi:10.1016/j.gim.2023.100870

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Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2023

Hanson Helen, Astiazaran-Symonds Esteban, Amendola Laura M, Balmaña Judith, Foulkes William D, James Paul, Klugman Susan, Ngeow Joanne, Schmutzler Rita, Voian Nicoleta, Wick Myra J, Pal Tuya, Tischkowitz Marc, Stewart Douglas R

Abstract excerpt

PURPOSE: Although the role of CHEK2 germline pathogenic variants in cancer predisposition is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited. METHODS: An international workgroup developed guidance on clinical management of CHEK2 heterozygotes informed by peer-reviewed publications from PubMed. RESULTS: Although CHEK2 is considered a moderate penetrance gene, cancer risks...

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Identifiers

PMID: 37490054
DOI: 10.1016/j.gim.2023.100870
PMCID: PMC10623578

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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