Familial Clonal Hematopoiesis in a Long Telomere Syndrome

In this study, persons with variant POT1 — a protein that regulates telomere length — were likely to have unusually long telomeres and susceptibility to clonal hematopoiesis and other neoplasms.

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Bibliographic Details
Published inThe New England journal of medicine Vol. 388; no. 26; pp. 2422 - 2433
Main Authors DeBoy, Emily A., Tassia, Michael G., Schratz, Kristen E., Yan, Stephanie M., Cosner, Zoe L., McNally, Emily J., Gable, Dustin L., Xiang, Zhimin, Lombard, David B., Antonarakis, Emmanuel S., Gocke, Christopher D., McCoy, Rajiv C., Armanios, Mary
Format Journal Article
LanguageEnglish
Published United States Massachusetts Medical Society 29.06.2023
Subjects
Age
Aging
Aging - genetics
Aging General
Allergy
Cancer
Cell division
Clonal Hematopoiesis - genetics
Cloning
Confidence intervals
Cytomegalovirus
DNA damage
Flow cytometry
Genetics
Genetics General
Genomes
Geriatrics
Hematology
Hemopoiesis
Heterozygote
Humans
Hypotheses
Hypothesis testing
Immunodeficiency
Immunology
Janus kinase 2
Leukemia
Loss of Function Mutation - genetics
Lymphocytes T
Lymphoma
Melanoma
Metastasis
Mutation
Mutation hot spots
Neoplasms - genetics
Oncology
Oncology General
Phenotypes
Proteins
Senescence
Shelterin Complex - genetics
Software
Syndrome
T-cell lymphoma
T-Cells
Telomerase
Telomere - genetics
Telomere - physiology
Telomere Homeostasis - genetics
Telomere-Binding Proteins - genetics
Telomeres
Thyroid gland
Tumors
Yeast
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Summary:In this study, persons with variant POT1 — a protein that regulates telomere length — were likely to have unusually long telomeres and susceptibility to clonal hematopoiesis and other neoplasms.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
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Ms. DeBoy and Dr. Tassia contributed equally to this article.
ISSN:0028-4793
1533-4406
1533-4406
DOI:10.1056/NEJMoa2300503