A study of Telomerase Reverse Transcriptase rare variants in myeloid neoplasia.
TERT rare variants
clinical genetics
myeloid neoplasia
telomeres
Journal
Hematological oncology
ISSN: 1099-1069
Titre abrégé: Hematol Oncol
Pays: England
ID NLM: 8307268
Informations de publication
Date de publication:
Oct 2022
Oct 2022
Historique:
pubmed:
3
2
2022
medline:
12
10
2022
entrez:
2
2
2022
Statut:
ppublish
Résumé
Telomere dysfunctions are associated with several hematopoietic stem cell (HSC) malignancies. Recent findings have indicated that the occurrence of rare variants of unknown significance (VUS) in the Telomerase Reverse Transcriptase (TERT) gene influences the outcomes of patients with myelodysplastic syndromes undergoing allogeneic HSC transplantation. However, the role of TERT variants has been historically controversial as initially considered pathogenic variants (H412Y, A202T) presenting functional consequences, were found very frequent in general population questioning their pathogenicity and risk allele significance. Herein, we show that overall TERT VUS are non-recurrent in myeloid disorders and cannot be considered risk alleles individually nor can their biological impact.
Substances chimiques
Telomerase
EC 2.7.7.49
Types de publication
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
812-817Subventions
Organisme : NHLBI NIH HHS
ID : R01HL118281
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01HL123904
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01HL132071
Pays : United States
Organisme : NHLBI NIH HHS
ID : R35HL135795
Pays : United States
Organisme : Vera and Joseph Dresner Foundation
Organisme : Henry and Marilyn Taub Foundation
Organisme : VeloSano pilot award
Organisme : Aplastic Anemia and MDS International Foundation
Organisme : American-Italian Cancer Foundation
Organisme : NHLBI NIH HHS
ID : R01HL118281
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01HL123904
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01HL132071
Pays : United States
Organisme : NHLBI NIH HHS
ID : R35HL135795
Pays : United States
Informations de copyright
© 2022 John Wiley & Sons Ltd.
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