Germline CHEK2 mutations in patients with myeloid neoplasms.

Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

Publication: 2000- : London : Nature Publishing Group, Specialist Journals
Original Publication: [Baltimore, Md.] : Williams & Wilkins, [c1987-

Neoplasms*; Humans ; Germ-Line Mutation ; Germ Cells ; Genetic Predisposition to Disease ; Checkpoint Kinase 2/genetics

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. (PMID: 10.1038/s41375-022-01613-1357328319252913)
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. (PMID: 10.1038/s41467-020-14829-5320989667042299)
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. (PMID: 10.1182/blood.2022015790359698359918848)
Bartek J, Lukas J. Chk1 and Chk2 kinases in checkpoint control and cancer. Cancer Cell. 2003;3:421–9. (PMID: 10.1016/S1535-6108(03)00110-712781359)
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. (PMID: 10.3390/cells9122675333227467763663)
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. (PMID: 10.1182/blood.202201686735797463)
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–24. (PMID: 10.1038/gim.2015.30257418684544753)
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. (PMID: 10.1182/blood-2009-03-20926219357394)
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. (PMID: 10.1111/bjh.1819335438802)
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. (PMID: 10.1182/blood-2012-03-420489227404534425443)
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. (PMID: 10.1182/blood.2021011354344824039211447)
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, et al. 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 [Internet]. juill 2023 [cité 27 juill 2023];0. Disponible sur: https://www.gimjournal.org/article/S1098-3600(23)00883-3/fulltext .
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. (PMID: 10.1016/j.leukres.2018.05.01329902706)
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. (PMID: 10.1182/bloodadvances.2019000901322084897094007)
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. (PMID: 10.1038/s41586-022-05448-9364509789713173)

EC 2.7.11.1 (CHEK2 protein, human)
EC 2.7.1.11 (Checkpoint Kinase 2)

Date Created: 20240220 Date Completed: 20240408 Latest Revision: 20240408

20240408

10.1038/s41375-024-02179-w

38378842