ArticleLeukemia2025
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Article in Leukemia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Clinical Impact of Germline Pathogenic Variants in High-risk Prostate Cancer Treated with Radiotherapy.European urology open science · 2026Article
- Article
- JAK2Leukemia · 2026Article
- Elevated Allele Frequency of a Common GermlineCancers · 2026Article
- 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 · 2026Article
- Article
- Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.Blood cancer journal · 2026Article
- Article
- Concurrent CML and MBL in a COPD patient: a case of collision hematologic malignancies and opportunistic infection.Frontiers in medicine · 2026Article
- Impact of Germline DNA Repair Mutations on Clonal Hematopoiesis and Myeloid Neoplasm Development.Current hematologic malignancy reports · 2025Review
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Authors and funding
18 authors.
Funding
Abstract
The role of germline CHEK2 variants in hematopoietic malignancies (HMs) is poorly understood. We examined pathogenic/likely pathogenic (P/LP) CHEK2 variants in patients with hereditary HMs (HHMs), a solid tumor risk cohort, public datasets, and a knock-in mouse model. In the HHM cohort, 57 probands had germline P/LP CHEK2 variants, mostly p.I157T (53%, 30/57). Among CHEK2 p.I157T carriers, 43% (19/44) had myeloid malignancies, 32% (14/44) had lymphoid malignancies, and 2% (1/44) had both. Among those with other germline P/LP CHEK2 alleles, 36% (13/36) had myeloid malignancies, 28% (10/36) had lymphoid malignancies, and 6% (2/36) had both. CHEK2 p.I157T was enriched in HM patients (OR 6.44, 95%CI 3.68-10.73, P < 0.001). In a solid tumor risk cohort, 36% (15/42) of CHEK2 p.I157T patients had a HM family history. A genome wide association study showed enrichment of CHEK2 loss-of-function variants with myeloid leukemia (P = 5.78e
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