Results 31 to 40 of about 1,869,696 (352)

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

, 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, Boutros, Paul C, Bristow, Robert G, Li, Constance H, PCAWG Consortium   +4 more
core   +1 more source

APOBEC Mutational Signature and Tumor Mutational Burden as Predictors of Clinical Outcomes and Treatment Response in Patients With Advanced Urothelial Cancer

Frontiers in Oncology, 2022
Introduction Tumor mutational burden (TMB) and APOBEC mutational signatures are potential prognostic markers in patients with advanced urothelial carcinoma (aUC). Their utility in predicting outcomes to specific therapies in aUC warrants additional study.
D. Natesan, Li Zhang, H. Martell, T. Jindal, P. Devine, B. Stohr, Carlos Espinosa-Mendez, J. Grenert, J. Van Ziffle, N. Joseph, S. Umetsu, C. Onodera, Michelle L. Turski, E. Chan, A. Desai, R. Aggarwal, A. Wong, S. Porten, J. Chou, T. Friedlander, L. Fong, E. Small, A. Sweet-Cordero, V. Koshkin   +23 more
semanticscholar   +1 more source

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

BMC 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, Pritha Chanana, Vivekananda Sarangi, Zachary C. Fogarty, S. John Weroha, Ruifeng Guo, Ellen L. Goode, Yajue Huang, Chen Wang   +8 more
doaj   +1 more source

A mutation-level covariate model for mutational signatures

PLOS Computational Biology, 2022
Mutational processes and their exposures in particular genomes are key to our understanding of how these genomes are shaped. However, current analyses assume that these processes are uniformly active across the genome without accounting for potential covariates such as strand or genomic region that could impact such activities.
Itay Kahane, Mark D.M. Leiserson, Roded Sharan   +2 more
openaire   +3 more sources

Sequence dependencies and mutation rates of localized mutational processes in cancer

Genome 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, Simon Grund Sørensen, Randi Istrup Juul, Morten Muhlig Nielsen, Jakob Skou Pedersen   +4 more
doaj   +1 more source

Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting RB1 and Uncovers a Treatment-Related Mutational Signature

Cancers, 2021
Simple Summary Retinoblastoma, a childhood cancer of the eye, is thought to be caused by inactivating mutations of both copies of the RB1 gene. The majority of RB1 mutations can be detected by clinical screening. However, retinoblastoma cases exist where
Helen R Davies, K. Broad, Z. Onadim, E. Price, Xueqing Zou, Ibrahim Sheriff, E. Karaa, I. Scheimberg, M. Reddy, M. Sagoo, S. Ohnuma, S. Nik-Zainal   +11 more
semanticscholar   +1 more source

Colon Tumors in Enterotoxigenic Bacteroides fragilis (ETBF)-Colonized Mice Do Not Display a Unique Mutational Signature but Instead Possess Host-Dependent Alterations in the APC Gene

Microbiology spectrum, 2022
Many studies have shown that microbiome composition in both the mucosa and the stool differs in individuals with sporadic and hereditary colorectal cancer (CRC).
Jawara Allen, Axel K M Rosendahl Huber, Cayetano Pleguezuelos-Manzano, Jens Puschhof, Shaoguang Wu, Xinqun Wu, Charelle Boot, Aurelia Saftien, Heather M. O’Hagan, Hao Wang, R. van Boxtel, H. Clevers, C. Sears   +12 more
semanticscholar   +1 more source

MutationalPatterns: the one stop shop for the analysis of mutational processes

BMC Genomics, 2022
Background The collective of somatic mutations in a genome represents a record of mutational processes that have been operative in a cell. These processes can be investigated by extracting relevant mutational patterns from sequencing data.
Freek Manders, Arianne M. Brandsma, Jurrian de Kanter, Mark Verheul, Rurika Oka, Markus J. van Roosmalen, Bastiaan van der Roest, Arne van Hoeck, Edwin Cuppen, Ruben van Boxtel   +9 more
doaj   +1 more source

Comprehensive Molecular Analyses of a Novel Mutational Signature Classification System with Regard to Prognosis, Genomic Alterations, and Immune Landscape in Glioma

Frontiers in Molecular Biosciences, 2021
Background: Glioma is the most common malignant brain tumor with complex carcinogenic process and poor prognosis. The current molecular classification cannot fully elucidate the molecular diversity of glioma.
Zaoqu Liu, Taoyuan Lu, Libo Wang, Long Liu, Lifeng Li, Xinwei Han   +5 more
semanticscholar   +1 more source

Trajectory and uniqueness of mutational signatures in yeast mutators [PDF]

Proceedings of the National Academy of Sciences, 2020
Significance Deficiencies in genome maintenance genes result in increased mutagenesis and genome rearrangements that impact cell viability, species adaptation, and evolvability. The accumulation of somatic mutations is also a landmark of most tumor cells but it remains difficult to retrospectively determine their mechanistic ...
Loeillet, Sophie, Herzog, Mareike, Puddu, Fabio, Legoix, Patricia, Baulande, Sylvain, Jackson, Stephen P, Nicolas, Alain G   +6 more
openaire   +2 more sources