Results 1 to 10 of about 31,785 (133)

Deciphering Signatures of Mutational Processes Operative in Human Cancer [PDF]

Cell Reports, 2013
The genome of a cancer cell carries somatic mutations that are the cumulative consequences of the DNA damage and repair processes operative during the cellular lineage between the fertilized egg and the cancer cell. Remarkably, these mutational processes
Ludmil B. Alexandrov, Serena Nik-Zainal, David C. Wedge, Peter J. Campbell, Michael R. Stratton   +4 more
doaj   +4 more sources

Unveiling the interplay between mutational signatures and tumor microenvironment: a pan-cancer analysis [PDF]

Frontiers in Immunology, 2023
BackgroundWhile recent studies have separately explored mutational signatures and the tumor microenvironment (TME), there is limited research on the associations of both factors in a pan-cancer context.Materials and methodsWe performed a pan-cancer ...
Li-Zhi Luo, Sheng Li, Chen Wei, Jiao Ma, Li-Mei Qian, Yan-Xing Chen, Shi-Xiang Wang, Qi Zhao   +7 more
doaj   +3 more sources

Mutational signatures in colon cancer [PDF]

BMC Research Notes, 2019
Objective Recently, many tumor sequencing studies have inferred and reported on mutational signatures, short nucleotide patterns at which particular somatic base substitutions appear more often.
Priyatama Pandey, Zhi Yang, Darryl Shibata, Paul Marjoram, Kimberly D. Siegmund   +4 more
doaj   +2 more sources

Identification of multiplicatively acting modulatory mutational signatures in cancer [PDF]

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   +2 more sources

SigsPack, a package for cancer mutational signatures [PDF]

BMC Bioinformatics, 2019
Background Mutational signatures are specific patterns of somatic mutations introduced into the genome by oncogenic processes. Several mutational signatures have been identified and quantified from multiple cancer studies, and some of them have been ...
Franziska Schumann, Eric Blanc, Clemens Messerschmidt, Thomas Blankenstein, Antonia Busse, Dieter Beule   +5 more
doaj   +3 more sources

Mutational signatures: experimental design and analytical framework [PDF]

Genome Biology, 2020
Mutational signatures provide a powerful alternative for understanding the pathophysiology of cancer. Currently, experimental efforts aimed at validating and understanding the etiologies of cancer-derived mutational signatures are underway.
Gene Koh, Xueqing Zou, Serena Nik-Zainal
doaj   +6 more sources

Mutational signatures in 175 Chinese gastric cancer patients [PDF]

BMC Cancer
Background Gastric cancer (GC), a molecularly heterogeneous disease, is the third leading cause of cancer death worldwide. The majority of GC cases worldwide occur in East Asia, predominantly China.
Fatao Liu, Nan Hu, Kewei Jiang, Huaitian Liu, Mingyi Wang, Ying Hu, Tongwu Zhang, Ho-Hsiang Wu, Howard Yang, Hao Weng, Ping Dong, Carol Giffen, Bin Zhu, Maxwell P. Lee, Christian C. Abnet, Philip R. Taylor, Yun Liu, Yingbin Liu, Alisa M. Goldstein   +18 more
doaj   +2 more sources

A Dirichlet-multinomial mixed model for determining differential abundance of mutational signatures [PDF]

BMC Bioinformatics
Background Mutational processes of diverse origin leave their imprints in the genome during tumour evolution. These imprints are called mutational signatures and they have been characterised for point mutations, structural variants and copy number ...
Lena Morrill Gavarró, Dominique-Laurent Couturier, Florian Markowetz   +2 more
doaj   +3 more sources

Pan-Cancer Analysis for Immune Cell Infiltration and Mutational Signatures Using Non-Negative Canonical Correlation Analysis

Applied Sciences, 2022
Mutational signatures indicate the mutational processes and substitution patterns in cancer cell genomes. However, the functional consequences of mutational signatures remain unclear, and there have been no comprehensive systematic studies to examine the
Je-Keun Rhee
doaj   +1 more source

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   +3 more sources