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Article

Impact of Germline CHEK2 Pathogenic Variants on the Risk of Acute Myeloid Leukemia and Myelodysplastic Syndrome.

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 2 Mar 2026

Yang Fei, Long Nicola, Savage Jonathan C, Solis-Ruiz Jose, Li Yu, Holt Angela C, Foley Kevin, Zhang Zhenzhen, Tyner Jeffrey W, Press Richard D, Shinde Ujwal, Agarwal Anupriya

Abstract excerpt

BACKGROUND: Pathogenic (P) germline variants in CHEK2 are associated with a moderately increased risk of several solid tumors; however, their contribution to myeloid malignancies remains poorly defined. METHODS: We analyzed germline CHEK2 variants in 1,035 patients with acute myeloid leukemia (AML) and 283 with myelodysplastic syndromes (MDS). P and likely pathogenic (LP) variants were identified, and their...

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Identifiers

PMID: 41432521
DOI: 10.1158/1055-9965.EPI-25-1074
PMCID: PMC13266361

Genes

CHEK2
IMPACT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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