Results 11 to 20 of about 299,286 (332)

A framework for mutational signature analysis based on DNA shape parameters.

PLoS ONE, 2022
The mutation risk of a DNA locus depends on its oligonucleotide context. In turn, mutability of oligonucleotides varies across individuals, due to exposure to mutagenic agents or due to variable efficiency and/or accuracy of DNA repair.
Aleksandra Karolak, Jurica Levatić, Fran Supek   +2 more
doaj   +3 more sources

Both cell autonomous and non-autonomous processes modulate the association between replication timing and mutation rate

Scientific Reports, 2023
Cancer somatic mutations are the product of multiple mutational and repair processes, some of which are tightly associated with DNA replication. Mutation rates (MR) are known to be higher in late replication timing (RT) regions, but different processes ...
Oriya Vardi-Yaacov, Adar Yaacov, Shai Rosenberg, Itamar Simon   +3 more
doaj   +1 more source

Mutational spectra are associated with bacterial niche

Nature Communications, 2023
As observed in cancers, individual mutagens and defects in DNA repair create distinctive mutational signatures that combine to form context-specific spectra within cells.
Christopher Ruis, Aaron Weimann, Gerry Tonkin-Hill, Arun Prasad Pandurangan, Marta Matuszewska, Gemma G. R. Murray, Roger C. Lévesque, Tom L. Blundell, R. Andres Floto, Julian Parkhill   +9 more
doaj   +1 more source

Mitochondrial DNA mutations in Medulloblastoma

Acta Neuropathologica Communications, 2023
To date, several studies on genomic events underlying medulloblastoma (MB) biology have expanded our understanding of this tumour entity and led to its division into four groups—WNT, SHH, group 3 (G3) and group 4 (G4).
Viktoria L. E. Funke, Sarah Sandmann, Viktoria Melcher, Jochen Seggewiss, Judit Horvath, Natalie Jäger, Marcel Kool, David T. W. Jones, Stefan M. Pfister, Till Milde, Stefan Rutkowski, Martin Mynarek, Julian Varghese, Ronald Sträter, Stephan Rust, Anja Seelhöfer, Janine Reunert, Barbara Fiedler, Ulrich Schüller, Thorsten Marquardt, Kornelius Kerl   +20 more
doaj   +1 more source

Rescue of Low-Yield DNA Samples for Next-Generation Sequencing Using Vacuum Centrifugal Concentration in a Clinical Workflow

Reports, 2023
The implementation of next-generation sequencing (NGS) in clinical oncology has enabled the analysis of multiple cancer-associated genes for diagnostics and treatment purposes.
Lau K. Vestergaard, Nicolai S. Mikkelsen, Douglas V. N. P. Oliveira, Tim S. Poulsen, Estrid V. Hoegdall   +4 more
doaj   +1 more source

Mutational processes in cancer preferentially affect binding of particular transcription factors

Scientific Reports, 2021
Protein binding microarrays provide comprehensive information about the DNA binding specificities of transcription factors (TFs), and can be used to quantitatively predict the effects of DNA sequence variation on TF binding.
Mo Liu, Arnoud Boot, Alvin W. T. Ng, Raluca Gordân, Steven G. Rozen   +4 more
doaj   +1 more source

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

BMC 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, Wanqing Wen, Qiuyin Cai, Jirong Long, Ying Wang, Weiqiang Lin, Xiao-ou Shu, Wei Zheng, Xingyi Guo   +8 more
doaj   +1 more source

Identification of multiplicatively acting modulatory mutational signatures in cancer

BMC Bioinformatics, 2022
Background A deep understanding of carcinogenesis at the DNA level underpins many advances in cancer prevention and treatment. Mutational signatures provide a breakthrough conceptualisation, as well as an analysis framework, that can be used to build ...
Dovydas Kičiatovas, Qingli Guo, Miika Kailas, Henri Pesonen, Jukka Corander, Samuel Kaski, Esa Pitkänen, Ville Mustonen   +7 more
doaj   +1 more source

Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies

Frontiers in Bioscience-Landmark, 2023
Background: There is considerable interest in the molecular evaluation of solid tumors in pediatric cases. Although clinical trials are in progress for targeted therapies against neuroblastoma (NB), novel therapeutic strategies are needed for high-risk ...
Tekincan Aktas, Deniz Kızmazoglu, Safiye Aktas, Aylin Erol, Efe Serinan, Ozde Gokbayrak, Sefayi Merve Ozdemir, Zekiye Altun, Erdener Ozer, Emre Cecen, Dilek Ince, Nur Olgun   +11 more
doaj   +1 more source

Mutational profile by targeted next generation sequencing of non-small cell lung cancer in the Mexican population

Salud Pública de México, 2019
Objective. Targeted next-generation sequencing (t-NGS) has revolutionized clinical diagnosis allowing multiplexed de­tection of genomic alterations. This study evaluated the profile of somatic mutations by t-NGS in Mexican patients with non-small cell ...
Norma Hernández-Pedro, Giovanny Soca-Chafre, Carmen Alaez-Versón, Karol Carrillo-Sánchez, Alejandro Avilés-Salas, Edgar Vergara, Oscar Arrieta   +6 more
doaj   +1 more source