Results 1 to 10 of about 84,630 (272)

Pan-cancer mutational signature surveys correlated mutational signature with geospatial environmental exposures and viral infections [PDF]

open access: yesComputational and Structural Biotechnology Journal, 2023
Background: Cancer has been disproportionally affecting minorities. Genomic-based cancer disparity analyses have been less common than conventional epidemiological studies. In the past decade, mutational signatures have been established as characteristic
Judy Bai   +9 more
doaj   +4 more sources

Regional mutational signature activities in cancer genomes. [PDF]

open access: yesPLoS Computational Biology, 2022
Cancer genomes harbor a catalog of somatic mutations. The type and genomic context of these mutations depend on their causes and allow their attribution to particular mutational signatures.
Caitlin Timmons   +2 more
doaj   +5 more sources

Comprehensive cross cancer analyses reveal mutational signature cancer specificity [PDF]

open access: yesQuantitative Biology
Mutational signatures refer to distinct patterns of DNA mutations that occur in a specific context or under certain conditions. It is a powerful tool to describe cancer etiology.
Rui Xin   +5 more
doaj   +2 more sources

Mutational signature analysis predicts bacterial hypermutation and multidrug resistance [PDF]

open access: yesNature Communications
Bacteria of clinical importance, such as Pseudomonas aeruginosa, can become hypermutators upon loss of DNA mismatch repair (MMR) and are clinically correlated with high rates of multidrug resistance (MDR).
Kalen M. Hall   +8 more
doaj   +2 more sources

Analysis of Mutations and Dysregulated Pathways Unravels Carcinogenic Effect and Clinical Actionability of Mutational Processes

open access: yesFrontiers in Cell and Developmental Biology, 2021
Somatic mutations accumulate over time in cancer cells as a consequence of mutational processes. However, the role of mutational processes in carcinogenesis remains poorly understood.
Zedong Jiang   +14 more
doaj   +1 more source

Divergent mutational processes distinguish hypoxic and normoxic tumours. [PDF]

open access: yes, 2020
Many primary tumours have low levels of molecular oxygen (hypoxia), and hypoxic tumours respond poorly to therapy. Pan-cancer molecular hallmarks of tumour hypoxia remain poorly understood, with limited comprehension of its associations with specific ...
Bhandari, Vinayak   +4 more
core   +1 more source

Mutational signature analysis in non-small cell lung cancer patients with a high tumor mutational burden

open access: yesRespiratory Research, 2021
Background Lung cancer is the leading cause of cancer death worldwide. With the growing number of targeted therapies and the introduction of immuno-oncology (IO), personalized medicine has become standard of care in patients with metastatic disease.
Guus R. M. van den Heuvel   +7 more
doaj   +1 more source

From tobacco smoking to cancer mutational signature: a mediation analysis strategy to explore the role of epigenetic changes

open access: yesBMC Cancer, 2020
Background Tobacco smoking is associated with a unique mutational signature in the human cancer genome. It is unclear whether tobacco smoking-altered DNA methylations and gene expressions affect smoking-related mutational signature.
Zhishan Chen   +8 more
doaj   +1 more source

Frequent POLE-driven hypermutation in ovarian endometrioid cancer revealed by mutational signatures in RNA sequencing

open access: yesBMC Medical Genomics, 2021
Background DNA polymerase epsilon (POLE) is encoded by the POLE gene, and POLE-driven tumors are characterized by high mutational rates. POLE-driven tumors are relatively common in endometrial and colorectal cancer, and their presence is increasingly ...
Jaime I. Davila   +8 more
doaj   +1 more source

Sequence dependencies and mutation rates of localized mutational processes in cancer

open access: yesGenome Medicine, 2023
Background Cancer mutations accumulate through replication errors and DNA damage coupled with incomplete repair. Individual mutational processes often show nucleotide sequence and functional region preferences.
Gustav Alexander Poulsgaard   +4 more
doaj   +1 more source

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