Results 91 to 100 of about 79,750 (108)

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage [PDF]

open access: yes, 2021
Mutational signatures are imprints of pathophysiological processes arising through tumorigenesis. We generated isogenic CRISPR-Cas9 knockouts (Δ) of 43 genes in human induced pluripotent stem cells, cultured them in the absence of added DNA damage, and ...
Agu, CA   +22 more
core  

Mutational signature distribution varies with DNA replication timing and strand asymmetry

open access: yesGenome Biology, 2018
Background DNA replication plays an important role in mutagenesis, yet little is known about how it interacts with other mutagenic processes. Here, we use somatic mutation signatures—each representing a mutagenic process—derived from 3056 patients ...
Marketa Tomkova   +3 more
doaj   +1 more source

Syngeneic animal models of tobacco-associated oral cancer reveal the activity of in situ anti-CTLA-4. [PDF]

open access: yes, 2019
Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide. Tobacco use is the main risk factor for HNSCC, and tobacco-associated HNSCCs have poor prognosis and response to available treatments.
Alexandrov, Ludmil B   +18 more
core  

Unravelling mutational signatures with plasma circulating tumour DNA

open access: yesNature Communications
The use of circulating tumour DNA (ctDNA) to profile mutational signatures represents a non-invasive opportunity for understanding cancer mutational processes.
Sebastian Hollizeck   +14 more
doaj   +1 more source

Hidden Markov models lead to higher resolution maps of mutation signature activity in cancer

open access: yesGenome Medicine, 2019
Knowing the activity of the mutational processes shaping a cancer genome may provide insight into tumorigenesis and personalized therapy. It is thus important to characterize the signatures of active mutational processes in patients from their patterns ...
Damian Wojtowicz   +6 more
doaj   +1 more source

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer. [PDF]

open access: yes
Tobacco smoke, alone or combined with alcohol, is the predominant cause of head and neck cancer (HNC). We explore how tobacco exposure contributes to cancer development by mutational signature analysis of 265 whole-genome sequenced HNC samples from eight
Abbasi, Ammal   +45 more
core   +4 more sources

Genomic Alteration Burden in Advanced Prostate Cancer and Therapeutic Implications. [PDF]

open access: yes, 2019
The increasing number of patients with sequenced prostate cancer genomes enables us to study not only individual oncogenic mutations, but also capture the global burden of genomic alterations.
Bose, Rohit, Ryan, Matthew J
core   +1 more source

A pooled mutational analysis identifies ionizing radiation-associated mutational signatures conserved between mouse and human malignancies

open access: yesScientific Reports, 2017
Single nucleotide variants (SNVs) identified in cancer genomes can be de-convolved using non-negative matrix factorization (NMF) into discrete trinucleotide-based mutational signatures indicative of specific cancer-causing processes. The stability of NMF-
Philip R. Davidson   +4 more
doaj   +1 more source

decompTumor2Sig: identification of mutational signatures active in individual tumors

open access: yesBMC Bioinformatics, 2019
Background The somatic mutations found in a tumor have in most cases been caused by multiple mutational processes such as those related to extrinsic carcinogens like cigarette smoke, and those related to intrinsic processes like age-related spontaneous ...
Sandra Krüger, Rosario M. Piro
doaj   +1 more source

Bayesian Probit Multi-Study Non-negative Matrix Factorization for Mutational Signatures [PDF]

open access: yesarXiv
Mutational signatures are patterns of somatic mutations in tumor genomes that provide insights into underlying mutagenic processes and cancer origin. Developing reliable methods for their estimation is of growing importance in cancer biology. Somatic mutation data are often collected for different cancer types, highlighting the need for multi-study ...
arxiv  

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