The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Germline CHEK2 mutations in patients with myeloid neoplasms
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In the citing paper
“Several small (<400 individuals) studies have linked CHEK2 PGVs to myeloid malignancies47,48.”
From Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy (2025) · cites this paper as [48]
Citations
Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · cited 1×
“%) were considered pathogenic/likely pathogenic (P/LP) according to the ACMG guidelines [7] (Supplementary Table 4) (Fig.”
Research works printed but not linked: 13
- Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia. 2022;36:1703–19. · DOI · Paper page
- Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun. 2020;11:1044. · DOI
- Feurstein S, Trottier AM, Estrada-Merly N, Pozsgai M, McNeely K, Drazer MW, et al. Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages. Blood. 2022;140:2533–48. · DOI
- Bartek J, Lukas J. Chk1 and Chk2 kinases in checkpoint control and cancer. Cancer Cell. 2003;3:421–9. · DOI · Paper page
- Stolarova L, Kleiblova P, Janatova M, Soukupova J, Zemankova P, Macurek L, et al. CHEK2 germline variants in cancer predisposition: stalemate rather than checkmate. Cells 2020;9:2675. · DOI
- Döhner H, Wei AH, Appelbaum FR, Craddock C, DiNardo CD, Dombret H, et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood. 2022;140:1345–77. · DOI
- Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114:937–51. · DOI
- Adès L, Duployez N, Guerci-Bresler A, Laribi K, Peterlin P, Vey N, et al. A randomised phase II study of azacitidine (AZA) alone or with Lenalidomide (LEN), Valproic acid (VPA) or Idarubicin (IDA) in higher-Risk MDS or low blast AML: GFM’s “pick a winner” trial, with the impact of somatic mutations. Br J Haematol. 2022;198:535–44. · DOI · Paper page
- Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120:2454–65. · DOI · Paper page
- Yang F, Long N, Anekpuritanang T, Bottomly D, Savage JC, Lee T, et al. Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML. Blood. 2022;139:1208–21. · DOI
- Janiszewska H, Bąk A, Skonieczka K, Jaśkowiec A, Kiełbiński M, Jachalska A, et al. Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML. Leuk Res. 2018;70:74–8. · DOI
- Brown AL, Arts P, Carmichael CL, Babic M, Dobbins J, Chong CE, et al. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Adv. 2020;4:1131–44. · DOI · Paper page
- Kessler MD, Damask A, O’Keeffe S, Banerjee N, Li D, Watanabe K, et al. Common and rare variant associations with clonal haematopoiesis phenotypes. Nature. 2022;612:301–9. · DOI · Paper page
Cited by
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy
Liu, J., Tran, D., Xue, L., Wiley, B. J., Vlasschaert, C., Watson, C. J., MacGregor, H. A. J., Zong, X., Chan, I. C. C., Das, I., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02250-x · Cited by 33
Metadata
- Authors
- Freiman, L., Larcher, L., Tueur, G., Vasquez, N., Da Costa, M., Duchmann, M., Raffoux, E., Adès, L., Fenaux, P., Soulier, J., Duployez, N., Clappier, E., & Sébert, M.
- Venue
- Leukemia
- Published
- 2024-02-20
- Volume
- 38
- Issue
- 4
- Pages
- 908-911
- ISSN
- 0887-6924
- 1476-5551
- Cited by
- 5
- References
- 1
- Language
- en
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