Articles with "mutational signatures" as a keyword



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Clinical and genomic characterization of mutational signatures across human cancers

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Published in 2022 at "International Journal of Cancer"

DOI: 10.1002/ijc.34402

Abstract: Mutational signatures, the generic patterns of mutations, are the footprints of both endogenous and exogenous factors that have influenced cancer development. To date, dozens of mutational signatures have been discerned through computational methods. However, the… read more here.

Keywords: cancer; related signature; clinical genomic; mutation ... See more keywords
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Divergence of mutational signatures in association with breast cancer subtype

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Published in 2022 at "Molecular Carcinogenesis"

DOI: 10.1002/mc.23461

Abstract: Abnormal molecular processes occurring throughout the genome leave distinct somatic mutational patterns termed mutational signatures. Exploring the associations between mutational signatures and clinicopathological features can unravel potential mechanisms driving tumorigenic processes. read more here.

Keywords: cancer subtype; signatures association; divergence mutational; breast cancer ... See more keywords
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Dissection of Cancer Mutational Signatures with Individual Components of Cigarette Smoking.

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Published in 2023 at "Chemical research in toxicology"

DOI: 10.1021/acs.chemrestox.3c00021

Abstract: Tobacco smoke delivers a complex mixture of hazardous and potentially hazardous chemicals. Some of these may induce the formation of DNA mutations, which increases the risk of various cancers that display characteristic patterns of accumulated… read more here.

Keywords: dissection cancer; tobacco; human cancers; mutational signatures ... See more keywords
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Genomic Characterization Revealed PM2.5-Associated Mutational Signatures in Lung Cancer Including Activation of APOBEC3B.

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Published in 2023 at "Environmental science & technology"

DOI: 10.1021/acs.est.2c08092

Abstract: Fine particulate matter (PM2.5) exposure causes DNA mutations and abnormal gene expression leading to lung cancer, but the detailed mechanisms remain unknown. Here, analysis of genomic and transcriptomic changes upon a PM2.5 exposure-induced human bronchial… read more here.

Keywords: lung cancer; exposure; pm2 exposure; mutational signatures ... See more keywords
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Quantification and Mapping of Alkylation in the Human Genome Reveal Single Nucleotide Resolution Precursors of Mutational Signatures

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Published in 2023 at "ACS Central Science"

DOI: 10.1021/acscentsci.2c01100

Abstract: Chemical modifications to DNA bases, including DNA adducts arising from reactions with electrophilic chemicals, are well-known to impact cell growth, miscode during replication, and influence disease etiology. However, knowledge of how genomic sequences and structures… read more here.

Keywords: damage; alkylation; single nucleotide; resolution ... See more keywords
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Single base substitution and insertion/deletion mutational signatures in adult core binding factor acute myeloid leukemia

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Published in 2022 at "Leukemia"

DOI: 10.1038/s41375-022-01552-x

Abstract: TO THE EDITOR Single base substitutions (SBSs) and insertions/deletions (indels; IDs) arise through several mechanisms such as errors during DNA replication/repair and exposures to mutagens, with the different mutational processes occasionally generating specific mutational signatures.… read more here.

Keywords: cancer; runx1 runx1t1; aml; mutational signatures ... See more keywords
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The repertoire of mutational signatures in human cancer

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Published in 2020 at "Nature"

DOI: 10.1038/s41586-020-1943-3

Abstract: Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature 1 . Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium 2 of… read more here.

Keywords: human cancer; cancer; base substitution; mutational signatures ... See more keywords
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signeR: an empirical Bayesian approach to mutational signature discovery

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Published in 2017 at "Bioinformatics"

DOI: 10.1093/bioinformatics/btw572

Abstract: Motivation: Mutational signatures can be used to understand cancer origins and provide a unique opportunity to group tumor types that share the same origins and result from similar processes. These signatures have been identified from… read more here.

Keywords: bayesian approach; number signatures; empirical bayesian; approach ... See more keywords
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Mutational signatures and increased retrotransposon insertions in Xeroderma Pigmentosum variant skin tumors

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Published in 2022 at "Carcinogenesis"

DOI: 10.1101/2022.07.28.22277756

Abstract: Xeroderma Pigmentosum variant (XP-V) is an autosomal recessive disease with an increased risk to develop cutaneous neoplasms in sunlight exposed regions. These cells are deficient in the translesion synthesis DNA polymerase eta. Eleven skin tumors… read more here.

Keywords: xeroderma pigmentosum; skin tumors; pigmentosum variant; mutational signatures ... See more keywords
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Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer

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Published in 2017 at "Science"

DOI: 10.1126/science.aao3130

Abstract: A signature event for organoids Human cancer genomes harbor cryptic mutational signatures that represent the cumulative effects of DNA damage and defects in DNA repair processes. Knowledge of how specific signatures originate could have a… read more here.

Keywords: origin mutational; crispr; signature; cancer ... See more keywords
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Abstract CN05-01: DNA damage signatures and practical use

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Published in 2018 at "Molecular Cancer Therapeutics"

DOI: 10.1158/1535-7163.targ-17-cn05-01

Abstract: A cancer genome is a historical account of the mutagenic activity that has occurred throughout the development of the tumor. Indeed, every mutation matters. While driver mutations were the main focus of cancer research for… read more here.

Keywords: cancer; dna damage; mutational signatures; nik zainal ... See more keywords