Results 61 to 70 of about 18,512,812 (309)
Applied Sciences, 2022 Mutational signatures indicate the mutational processes and substitution patterns in cancer cell genomes. However, the functional consequences of mutational signatures remain unclear, and there have been no comprehensive systematic studies to examine the
Je-Keun Rhee
doaj +1 more source
Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer. [PDF]
PLoS Genet, 2020 Cancer genomes with mutations in the exonuclease domain of Polymerase Epsilon (POLE) present with an extraordinarily high somatic mutation burden. In vitro studies have shown that distinct POLE mutants exhibit different polymerase activity and yet, how ...
Fang H +5 more
europepmc +2 more sources
Mutational topography reflects clinical neuroblastoma heterogeneity
Cell Genomics, 2023 Summary: Neuroblastoma is a pediatric solid tumor characterized by strong clinical heterogeneity. Although clinical risk-defining genomic alterations exist in neuroblastomas, the mutational processes involved in their generation remain largely unclear ...
Elias Rodriguez-Fos +17 more
doaj
SigsPack, a package for cancer mutational signatures
BMC Bioinformatics, 2019 Background Mutational signatures are specific patterns of somatic mutations introduced into the genome by oncogenic processes. Several mutational signatures have been identified and quantified from multiple cancer studies, and some of them have been ...
Franziska Schumann +5 more
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The impact of rare germline variants on human somatic mutation processes
Nature Communications, 2022 Somatic mutations are an inevitable component of ageing and the most important cause of cancer. The rates and types of somatic mutation vary across individuals, but relatively few inherited influences on mutation processes are known.
Mischan Vali-Pour +5 more
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Finding driver mutations in cancer: Elucidating the role of background mutational processes. [PDF]
PLoS Comput Biol, 2019 Identifying driver mutations in cancer is notoriously difficult. To date, recurrence of a mutation in patients remains one of the most reliable markers of mutation driver status.
Brown AL +3 more
europepmc +2 more sources
Cancer initiation with epistatic interactions between driver and passenger mutations [PDF]
Journal of Theoretical Biology 358, 52-60 (2014), 2013 We investigate the dynamics of cancer initiation in a mathematical model with one driver mutation and several passenger mutations. Our analysis is based on a multi type branching process: We model individual cells which can either divide or undergo apoptosis.
arxiv +1 more source
Somatic mutation processes at a human minisatellite [PDF]
Human Molecular Genetics, 1997 Germline instability at human minisatellites frequently involves complex inter-allelic transfers of repeat units usually restricted to one end of the repeat array and apparently regulated by flanking DNA. In contrast, nothing is known about the structural basis of somatic instability at minisatellites.
Jeffreys, AJ, Neumann, R
openaire +4 more sources
SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events
BMC Genomics, 2019 Background Cancer genomes are peppered with somatic mutations imprinted by different mutational processes. The mutational pattern of a cancer genome can be used to identify and understand the etiology of the underlying mutational processes. A plethora of
Erik N. Bergstrom +6 more
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Using CRISPR to understand how cancer mutations happen
Communications Biology, 2021 Somatic mutations in cancer genomes can be caused by many different mutational processes, each of which produce distinctive patterns termed “mutational signatures”.
Eve H. Rogers
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