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Huge Genome Study Uncovers Mutational Signatures
Cancer Discovery, 2022Abstract A massive survey of whole-genome–sequenced tumors has revealed dozens of new mutational signatures—many suggestive of organ-specific mutational processes, many shaped by treatment histories, and many reflective of different genetic or environmental causes of cancer.
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Mutation Signatures Depend on Epigenomic Contexts
Trends in Cancer, 2018Mutation signatures - the patterns of acquired genetic changes in somatic genomes - provide critical insights into DNA repair defects and exposure to mutagenic processes during development, aging, and cancer progression. Efforts to decipher the etiology of the emerging computationally predicted mutation signatures in cancer genomes are currently ...
Neil, Coleman, Subhajyoti, De
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Esophageal cancer mutational signatures around the world
Nature Genetics, 2021Mutational signatures can shed light onto mechanisms of carcinogenesis and reveal the mutagenic impact of novel and established environmental risk factors. A new study examines the mutational spectra of esophageal squamous cell cancer together with exposure information in regions of high and low incidence of the disease, and demonstrates both the ...
Marios Giannakis, Ulrike Peters
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Mutational signature sleuthing
Science, 2018Cancer Individuals with the inherited skin disease recessive dystrophic epidermolysis bullosa (RDEB) are predisposed to developing aggressive squamous cell carcinomas (SCCs). Cho et al. sequenced multiple RDEB SCC tumors and found that the mutation profile in these carcinomas was most consistent with APOBEC-associated mutagenesis, unlike other types of
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Mutational signatures and processes in hepatobiliary cancers
Nature Reviews Gastroenterology & Hepatology, 2022The evolutionary history of hepatobiliary cancers is embedded in their genomes. By analysing their catalogue of somatic mutations and the DNA sequence context in which they occur, it is possible to infer the mechanisms underpinning tumorigenesis. These mutational signatures reflect the exogenous and endogenous origins of genetic damage as well as the ...
Ekaterina Zhuravleva +2 more
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PhySigs: Phylogenetic Inference of Mutational Signature Dynamics
Biocomputing 2020, 2019Distinct mutational processes shape the genomes of the clones comprising a tumor. These processes result in distinct mutational patterns, summarized by a small number of mutational signatures. Current analyses of clone-specific exposures to mutational signatures do not fully incorporate a tumor's evolutionary context, either inferring identical ...
Sarah, Christensen +2 more
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Mutation signatures reveal clonal evolution
Blood, 2023Yoke Seng Lee, Peter van Galen
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Somatic mutation signatures of cancer.
AMIA ... Annual Symposium proceedings. AMIA Symposium, 2010The advancement of cancer diagnosis, prognosis, and treatment would be hastened via a robust method to identify patterns that indicate a tumor's state. Prior research has established that sporadic, colorectal-cancer pathogenesis involves a series of genetic mutations that allow benign polyps to develop and eventually progress to malignant tumors in ...
Stephen R, Piccolo, Lewis J, Frey
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Mutational Signatures in Cancer
The Journal of Molecular Diagnostics, 2023Fei Dong, Kurtis D. Davies
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