The evolutionary dynamics and fitness landscape of clonal hematopoiesis

Science, Journal Year: 2020, Volume and Issue: 367(6485), P. 1449 - 1454

Published: March 26, 2020

Evolutionary dynamics in hematopoiesis Cells accumulate mutations as we age, and these can be a source of diseases such cancer. How cells containing evolve, are maintained, proliferate within the body has not been well characterized. Using quantitative framework, Watson et al. applied population genetic theory to estimate mutation accumulation blood from sequencing data derived nearly 50,000 healthy individuals (see Perspective by Curtis). By evaluating how differ between cell populations, phenomenon known clonal hematopoiesis, researchers could observe recurrent drive certain lineages high frequencies an individual. The risk specific mutations, some which associated with leukemias, rising may therefore function cellular selection age at originated. Science , this issue p. 1449 ; see also 1426

Language: Английский

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Targeted nanopore sequencing with Cas9-guided adapter ligation

Nature Biotechnology, Journal Year: 2020, Volume and Issue: 38(4), P. 433 - 438

Published: Feb. 10, 2020

Language: Английский

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The Reactome Pathway Knowledgebase 2024

Nucleic Acids Research, Journal Year: 2023, Volume and Issue: 52(D1), P. D672 - D678

Published: Nov. 6, 2023

The Reactome Knowledgebase (https://reactome.org), an Elixir and GCBR core biological data resource, provides manually curated molecular details of a broad range normal disease-related processes. Processes are annotated as ordered network transformations in single consistent model. thus functions both digital archive human processes tool for discovering functional relationships such gene expression profiles or somatic mutation catalogs from tumor cells. Here we review progress towards annotation the entire proteome, targeted disease-causing genetic variants proteins small-molecule drugs pathway context, supporting explicit cell- tissue-specific pathways. Finally, briefly discuss issues involved making more fully interoperable with other related resources Gene Ontology maintaining resulting community resource network.

Language: Английский

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Update on Fundamental Mechanisms of Thyroid Cancer

Frontiers in Endocrinology, Journal Year: 2020, Volume and Issue: 11

Published: March 13, 2020

The incidence of thyroid cancer (TC) has increased worldwide over the past four decades. TC is divided into three main histological types: differentiated (papillary and follicular TC), undifferentiated (poorly anaplastic medullary TC, arising from C cells. This review discusses molecular mechanisms associated to pathogenesis different types their clinical relevance. In last years, progresses in genetic characterization have provided markers for diagnosis, risk stratification treatment targets. Recently, papillary been reclassified two subtypes, named BRAF-like RAS-like, range risks. Similarly, proposed complement new histopathological classification order estimate prognosis. New analyses characterized a comprehensive profile raising role RET mutations. More recent evidences suggested that immune microenvironment may play critical tumor invasion, with potential immunotherapeutic implications advanced metastatic TC. Several ancillary approaches developed improve diagnostic value fine needle aspiration biopsies indeterminate nodules. Finally, liquid biopsy, as non-invasive tool body fluids genotyping, brings prospective disease therapy monitoring. Despite all these novelties, much work still remains be done fully understand biological behaviors transfer this knowledge practice.

Language: Английский

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Identification of neoantigens for individualized therapeutic cancer vaccines

Nature Reviews Drug Discovery, Journal Year: 2022, Volume and Issue: 21(4), P. 261 - 282

Published: Feb. 1, 2022

Language: Английский

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