Germline risk of clonal haematopoiesis
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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
Citations
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Journal ArticleDOI
Somatic Mutations in Cardiovascular Disease
TL;DR: In this article , the authors provide an overview of somatic mutations and their contributions to CVD, focusing on the most common and well-described manifestation, clonal hematopoiesis of indeterminate potential.
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Loss of Y and clonal hematopoiesis in blood-two sides of the same coin?
Viktor Ljungström,Viktor Ljungström,Jonas Mattisson,Jonatan Halvardson,Tatjana Pandzic,Tatjana Pandzic,Hanna Davies,Edyta Rychlicka-Buniowska,Marcus Danielsson,Paul Lacaze,Lucia Cavelier,Lucia Cavelier,Jan P. Dumanski,Jan P. Dumanski,Panagiotis Baliakas,Panagiotis Baliakas,Lars Forsberg,Lars Forsberg +17 more
Journal ArticleDOI
Clonal Hematopoiesis, Somatic Mosaicism, and Age-Associated Disease.
Megan A Evans,Kenneth Walsh +1 more
TL;DR: An up-to-date review of clonal hematopoiesis within the context somatic mosaicism and aging is provided and recent epidemiological studies which have reported associations with age-related disease are described.
Journal ArticleDOI
Modeling clonal hematopoiesis in umbilical cord blood cells by CRISPR/Cas9.
Friederike Christen,Raphael Hablesreiter,Kaja Hoyer,Cornelius Hennch,Antje Maluck-Böttcher,Angela Segler,Annett Madadi,Mareike Frick,Mareike Frick,Lars Bullinger,Lars Bullinger,Franziska Briest,Frederik Damm,Frederik Damm +13 more
TL;DR: In this paper, site-specific mutations were introduced in defined regions of DNMT3A, TET2, and ASXL1 in CD34+ progenitor cells that were subsequently analyzed in short-term as well as long-term in vitro culture assays to assess self-renewal and differentiation capacities.
Journal ArticleDOI
Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies
TL;DR: The role that deleterious germline CHEK2 and ATM variants play in the development of hematopoietic malignancies is reviewed, and how this influences clinical practice, including cancer screening, hematoplastic stem cell transplantation, and therapy choice is reviewed.
References
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Journal ArticleDOI
Clonal hematopoiesis in hematopoietic stem cell transplantation.
TL;DR: In this paper, the authors reviewed recent efforts to investigate how CH influences patient outcomes in hematopoietic stem cell transplantation - both autologous (ASCT) and allogeneic (allo-HSCT).
Journal ArticleDOI
Germline BAX Deletion in a Patient With Melanoma and Gastrointestinal Stromal Tumor
Amanda Gonçalves Silva,Bianca Lisboa,Maria Isabel Achatz,Dirce Maria Carraro,Isabela Werneck da Cunha,Peter L. Pearson,Ana Cristina Victorino Krepischi,Carla Rosenberg +7 more
TL;DR: GIST is a rare tumor that derives from mesenchymal / stromal cells driven by onco-genic activation of melanoma and the co-occurrence of GIST and melanoma in the same patient is an unusual event.
Posted ContentDOI
Age-related clonal haematopoiesis is more prevalent in older adults with HIV: the ARCHIVE study
Mark A. Dawson,Mark A. Dawson,Nila J. Dharan,Paul Yeh,Paul Yeh,Mark Bloch,Miriam M. Yeung,David Baker,Jerick Guinto,Norman Roth,Sarah Ftouni,Katherine Ognenovska,Don Smith,Jennifer F Hoy,Ian Woolley,Catherine Pell,David J Templeton,David J Templeton,Neil Fraser,Nectarios Rose,Jolie Hutchinson,Kathy Petoumenos,Sarah-Jane Dawson,Sarah-Jane Dawson,Mark N. Polizzotto,Mark N. Polizzotto +25 more
TL;DR: CH and HIV infection were independently associated with increases in blood parameters and biomarkers associated with inflammation, suggesting a selective advantage for the emergence of CH in the context of chronic infection and inflammation related to HIV infection.