Germline risk of clonal haematopoiesis
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TLDR
In this paper, the authors synthesize what is currently known about how inherited variation shapes the risk of clonal haematopoiesis and how this genetic architecture intersects with the biology of diseases that occur with ageing.Abstract:
Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with somatic mutations that is associated with an increased risk of haematological malignancies, cardiovascular disease and all-cause mortality. CH may be caused by point mutations in genes associated with myeloid neoplasms, chromosomal copy number changes and loss of heterozygosity events. How inherited and environmental factors shape the incidence of CH is incompletely understood. Even though the several varieties of CH may have distinct phenotypic consequences, recent research points to an underlying genetic architecture that is highly overlapping. Moreover, there are numerous commonalities between the inherited variation associated with CH and that which has been linked to age-associated biomarkers and diseases. In this Review, we synthesize what is currently known about how inherited variation shapes the risk of CH and how this genetic architecture intersects with the biology of diseases that occur with ageing.read more
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Clonal hematopoiesis: role in hematologic non-hematologic
TL;DR: Clonal hematopoiesis of indeterminate potential (CHIP) as discussed by the authors is a term defining the clonal expansion of genetically variant HSCs bearing one or more gene mutations and/or structural variants (such as copy number alterations).
Journal ArticleDOI
Review of clonal hematopoiesis, subtypes and its role in neoplasia and different morbidities.
TL;DR: Clonal hematopoiesis (CH) is the development of a certain cell lineage which is the cornerstone of hematologic malignancy especially myeloid neoplasms, however, can also be found in old age as discussed by the authors .
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Mantle cell lymphoma and the evidence of an immature lymphoid component.
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A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
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TL;DR: Genetic evidence and in vitro functional studies indicate that V617F gives hematopoietic precursors proliferative and survival advantages and a high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.