Somatic mutations provide important and unique insights into the biology of complex diseases.
TLDR
In this article, the authors present the utility of mutations for understanding both the causes and consequences of common complex disease and the challenges that remain for the joint study of the soma and germline.About:
This article is published in Trends in Genetics.The article was published on 2021-10-01 and is currently open access. It has received 15 citations till now. The article focuses on the topics: Somatic evolution in cancer & Somatic cell.read more
Citations
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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
Genetics of somatic auto-inflammatory disorders.
James A. Poulter,Sinisa Savic +1 more
TL;DR: In this article, the authors discuss the current knowledge surrounding the genetics of acquired auto-inflammatory disorders (AAIDs), with a focus on VEXAS, NLRP3-associated AAIDs and Schnitzler's syndrome.
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Macrophages at the interface of the co-evolving cancer ecosystem
Daan Kloosterman,Leila Akkari +1 more
TL;DR: In this paper , the authors review the multilayered sources of influence that jointly underpin and longitudinally shape tumor-associated macrophage phenotypic states in solid neoplasms.
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Cancer Stem Cells (CSCs), Circulating Tumor Cells (CTCs) and Their Interplay with Cancer Associated Fibroblasts (CAFs): A New World of Targets and Treatments
Beatrice Aramini,Valentina Masciale,Chiara Arienti,Massimo Dominici,F. Stella,Giovanni Martinelli,Francesco Fabbri +6 more
TL;DR: This review would like to represent an important step forward to highlight the roles of small molecules in solid tumors as cancer stem cells, circulating tumor cells, and cancer-associated fibroblasts and the possible connections among them.
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An update on VEXAS syndrome
TL;DR: In this paper , the authors described the discovery of VEXAS, relevant genetic causes and immunopathology of the disease, a detailed account of its various clinical manifestations and disease mimics is provided.
References
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Journal ArticleDOI
Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes
Siddhartha Jaiswal,Pierre Fontanillas,Jason Flannick,Jason Flannick,Alisa K. Manning,Peter V. Grauman,Brenton G. Mar,Brenton G. Mar,R. Coleman Lindsley,Craig H. Mermel,Noël P. Burtt,Alejandro Chavez,John M. Higgins,Vladislav Moltchanov,Vladislav Moltchanov,Frank C. Kuo,Michael J. Kluk,Brian E. Henderson,Leena Kinnunen,Heikki A. Koistinen,Heikki A. Koistinen,Claes Ladenvall,Gad Getz,Adolfo Correa,Benjamin F. Banahan,Stacey Gabriel,Stacey Gabriel,Sekar Kathiresan,Heather M. Stringham,Mark I. McCarthy,Michael Boehnke,Jaakko Tuomilehto,Jaakko Tuomilehto,Jaakko Tuomilehto,Christopher A. Haiman,Leif Groop,Gil Atzmon,James G. Wilson,Donna Neuberg,David Altshuler,Benjamin L. Ebert +40 more
TL;DR: Age-related clonal hematopoiesis is a common condition that is associated with increases in the risk of hematologic cancer and in all-cause mortality, with the latter possibly due to an increased risk of cardiovascular disease.
Journal ArticleDOI
Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
Giulio Genovese,Anna K. Kähler,Robert E. Handsaker,Johan Lindberg,Samuel A. Rose,Samuel F. Bakhoum,Kimberly Chambert,Eran Mick,Benjamin M. Neale,Menachem Fromer,Shaun Purcell,Oscar Svantesson,Mikael Landén,Martin Höglund,Sören Lehmann,Stacey Gabriel,Jennifer L. Moran,Eric S. Lander,Patrick F. Sullivan,Pamela Sklar,Henrik Grönberg,Christina M. Hultman,Steven A. McCarroll +22 more
TL;DR: Clonal hematopoiesis with somatic mutations is readily detected by means of DNA sequencing, is increasingly common as people age, and is associated with increased risks of hematologic cancer and death.
Journal ArticleDOI
Mendelian randomization: using genes as instruments for making causal inferences in epidemiology.
TL;DR: The use of germline genetic variants that proxy for environmentally modifiable exposures as instruments for these exposures is one form of IV analysis that can be implemented within observational epidemiological studies and can be considered as analogous to randomized controlled trials.
Journal ArticleDOI
Mendelian randomization: genetic anchors for causal inference in epidemiological studies
George Davey Smith,Gibran Hemani +1 more
TL;DR: Developments of MR, including two-sample MR, bidirectional MR, network MR, two-step MR, factorial MR and multiphenotype MR, are outlined in this review.
Journal ArticleDOI
Clonal Hematopoiesis and risk of atherosclerotic cardiovascular disease
Siddhartha Jaiswal,Pradeep Natarajan,Pradeep Natarajan,Alexander J. Silver,Christopher J. Gibson,Alexander G. Bick,Eugenia Shvartz,Marie McConkey,Namrata Gupta,Stacey Gabriel,Diego Ardissino,Usman Baber,Roxana Mehran,Valentin Fuster,Valentin Fuster,John Danesh,Philippe M. Frossard,Danish Saleheen,Olle Melander,Olle Melander,Galina K. Sukhova,Donna Neuberg,Peter Libby,Sekar Kathiresan,Benjamin L. Ebert +24 more
TL;DR: The presence of CHIP in peripheral‐blood cells was associated with nearly a doubling in the risk of coronary heart disease in humans and with accelerated atherosclerosis in mice.
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