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Article

Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.

JAMA oncology - 1 Nov 2022

Bychkovsky Brittany L, Agaoglu Nihat B, Horton Carolyn, Zhou Jing, Yussuf Amal, Hemyari Parichehr, Richardson Marcy E, Young Colin, LaDuca Holly, McGuinness Deborah L, Scheib Rochelle, Garber Judy E, Rana Huma Q

Abstract excerpt

Importance: Germline CHEK2 pathogenic variants (PVs) are frequently detected by multigene cancer panel testing (MGPT), but our understanding of PVs beyond c.1100del has been limited. Objective: To compare cancer phenotypes of frequent CHEK2 PVs individually and collectively by variant type. Design, Setting, and Participants: This retrospective cohort study was carried out in a single diagnostic testing laboratory...

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Identifiers

PMID: 36136322
DOI: 10.1001/jamaoncol.2022.4071
PMCID: PMC9501803

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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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