Results 11 to 20 of about 1,869,696 (352)

Accuracy of mutational signature software on correlated signatures. [PDF]

Sci Rep, 2022
Mutational signatures are characteristic patterns of mutations generated by exogenous mutagens or by endogenous mutational processes. Mutational signatures are important for research into DNA damage and repair, aging, cancer biology, genetic toxicology ...
Wu Y, Chua EHZ, Ng AWT, Boot A, Rozen SG.   +4 more
europepmc   +5 more sources

The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature [PDF]

Nature Communications, 2018
Cutaneous squamous cell carcinoma (cSCC) has a high tumour mutational burden (50 mutations per megabase DNA pair). Here, we combine whole-exome analyses from 40 primary cSCC tumours, comprising 20 well-differentiated and 20 moderately/poorly ...
A Gonzalez-Perez, A Gonzalez-Perez, A Sekulic, AH Ramos, AP South, AZ Dayem Ullah, CA Harwood, CA Harwood, CA Harwood, CA Miller, CH An, CH Mermel, CR Pickering, CS Lee, CS Nowell, D Roy, D Tamborero, DA Landau, DC Koboldt, EM Briso, F Vandin, G Petrof, GF Hofbauer, GL Garrett, GP Dotto, GP Guy Jr, H Mitsui, I Martincorena, I Nindl, J Drost, J Okosun, J Okosun, JA Oyer, JW Peacock, K Tawana, KJ Purdie, KJ Purdie, L Hameetman, LB Alexandrov, LB Alexandrov, LB Alexandrov, LB Alexandrov, LB Alexandrov, M Duff Le, M Herman, M Hollstein, M Ibarrola-Villava, M Ming, M Petljak, MC Hollander, ME Ritchie, ML Slattery, MS Lawrence, MS Stark, N Andor, N Andor, N McCarroll, P Bailey, P Cammareri, P Du, P Karran, P Loo Van, P O’Donovan, PS Karia, R Salgado, RJ Cutts, S Alsafadi, S Fawdar, S Popp, S Schubbert, SL Stroschein, SP O’Hara, SR Lambert, V Chitsazzadeh, W Chen, X Xue, YY Li, Z Zhu   +77 more
core   +7 more sources

SomaticSiMu: A mutational signature simulator [PDF]

Bioinformatics, 2021
Summary SomaticSiMu is an in silico simulator of single and double base substitutions, and single base insertions and deletions in an input genomic sequence to mimic mutational signatures.
David Chen, Gurjit S. Randhawa, Maximillian P. M. Soltysiak, C. P. de Souza, L. Kari, Shiva M. Singh, K. Hill   +6 more
semanticscholar   +3 more sources

Portrait of a cancer: mutational signature analyses for cancer diagnostics

BMC Cancer, 2019
Background In the past decade, systematic and comprehensive analyses of cancer genomes have identified cancer driver genes and revealed unprecedented insight into the molecular mechanisms underlying the initiation and progression of cancer. These studies
Arne Van Hoeck, Niels H. Tjoonk, Ruben van Boxtel, Edwin Cuppen   +3 more
doaj   +2 more sources

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   +2 more sources

Integrative genomic analyses of APOBEC-mutational signature, expression and germline deletion of APOBEC3 genes, and immunogenicity in multiple cancer types

BMC Medical Genomics, 2019
Background Although APOBEC-mutational signature is found in tumor tissues of multiple cancers, how a common germline APOBEC3A/B deletion affects the mutational signature remains unclear.
Zhishan Chen, Wanqing Wen, Jiandong Bao, Krystle L. Kuhs, Qiuyin Cai, Jirong Long, Xiao-ou Shu, Wei Zheng, Xingyi Guo   +8 more
doaj   +2 more sources

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

Nature 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, Leonard G. Williams, Richard D. Smith, Erin A. Kuang, Robert K. Ernst, Christine M. Bojanowski, William C. Wimley, Lisa A. Morici, Zachary F. Pursell   +8 more
doaj   +2 more sources

Mutational signatures in colon cancer. [PDF]

BMC Research Notes, 2019
ObjectiveRecently, many tumor sequencing studies have inferred and reported on mutational signatures, short nucleotide patterns at which particular somatic base substitutions appear more often.
Marjoram, Paul, Pandey, Priyatama, Shibata, Darryl, Siegmund, Kimberly D, Yang, Zhi   +4 more
core   +7 more sources

APOBEC3B and APOBEC mutational signature as potential predictive markers for immunotherapy response in non-small cell lung cancer [PDF]

Oncogene, 2018
Non-small cell lung cancer (NSCLC) is known to carry heavy mutation load. Besides smoking, cytidine deaminase APOBEC3B plays a key role in the mutation process of NSCLC.
Shixiang Wang, Mingming Jia, Zaoke He, Xuesong Liu   +3 more
openalex   +2 more sources

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer [PDF]

EBioMedicine, 2017
8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during DNA replication. When operating normally, the MUTYH DNA glycosylase prevents 8-oxoguanine-related mutagenesis by excising the incorporated ...
Alessandra Viel, Alessandro Bruselles, Ettore Meccia, Mara Fornasarig, Michele Quaia, Vincenzo Canzonieri, Eleonora Policicchio, Emanuele Damiano Urso, Marco Agostini, Maurizio Genuardi, Emanuela Lucci-Cordisco, Tiziana Venesio, Aline Martayan, Maria Grazia Diodoro, Lupe Sanchez-Mete, Vittoria Stigliano, Filomena Mazzei, Francesca Grasso, Alessandro Giuliani, Marta Baiocchi, Roberta Maestro, Giuseppe Giannini, Marco Tartaglia, Ludmil B. Alexandrov, Margherita Bignami   +24 more
doaj   +2 more sources