MutationalPatterns: the one stop shop for the analysis of mutational processes
F Manders, AM Brandsma, J de Kanter, M Verheul… - BMC genomics, 2022 - Springer
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 …
mutational processes that have been operative in a cell. These processes can be …
The co-evolution of the genome and epigenome in colorectal cancer
T Heide, J Househam, GD Cresswell, I Spiteri, C Lynn… - Nature, 2022 - nature.com
Colorectal malignancies are a leading cause of cancer-related death and have undergone
extensive genomic study,. However, DNA mutations alone do not fully explain malignant …
extensive genomic study,. However, DNA mutations alone do not fully explain malignant …
The mutational signature profile of known and suspected human carcinogens in mice
Epidemiological studies have identified many environmental agents that appear to
significantly increase cancer risk in human populations. By analyzing tumor genomes from …
significantly increase cancer risk in human populations. By analyzing tumor genomes from …
Computational tools to detect signatures of mutational processes in DNA from tumours: a review and empirical comparison of performance
H Omichessan, G Severi, V Perduca - PloS one, 2019 - journals.plos.org
Mutational signatures refer to patterns in the occurrence of somatic mutations that might be
uniquely ascribed to particular mutational process. Tumour mutation catalogues can reveal …
uniquely ascribed to particular mutational process. Tumour mutation catalogues can reveal …
Mutational signatures: From methods to mechanisms
YA Kim, MDM Leiserson, P Moorjani… - Annual Review of …, 2021 - annualreviews.org
Mutations are the driving force of evolution, yet they underlie many diseases, in particular,
cancer. They are thought to arise from a combination of stochastic errors in DNA processing …
cancer. They are thought to arise from a combination of stochastic errors in DNA processing …
Contribution of pks+E. coli mutations to colorectal carcinogenesis
B Chen, D Ramazzotti, T Heide, I Spiteri… - Nature …, 2023 - nature.com
The dominant mutational signature in colorectal cancer genomes is C> T deamination
(COSMIC Signature 1) and, in a small subgroup, mismatch repair signature (COSMIC …
(COSMIC Signature 1) and, in a small subgroup, mismatch repair signature (COSMIC …
Mutational signatures and heterogeneous host response revealed via large-scale characterization of SARS-CoV-2 genomic diversity
To dissect the mechanisms underlying the inflation of variants in the Severe Acute
Respiratory Syndrome CoronaVirus 2 (SARS-CoV-2) genome, we present a large-scale …
Respiratory Syndrome CoronaVirus 2 (SARS-CoV-2) genome, we present a large-scale …
Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy
D Mas-Ponte, M McCullough, F Supek - Clinical Science, 2022 - portlandpress.com
Genome sequencing can be used to detect DNA repair failures in tumors and learn about
underlying mechanisms. Here, we synthesize findings from genomic studies that examined …
underlying mechanisms. Here, we synthesize findings from genomic studies that examined …
Cutting-edge ai technologies meet precision medicine to improve cancer care
PC Lin, YS Tsai, YM Yeh, MR Shen - Biomolecules, 2022 - mdpi.com
To provide precision medicine for better cancer care, researchers must work on clinical
patient data, such as electronic medical records, physiological measurements, biochemistry …
patient data, such as electronic medical records, physiological measurements, biochemistry …
Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations
Background Germline mutations in the BRCA1 and BRCA2 genes predispose carriers to
breast and ovarian cancer, and there remains a need to identify the specific genomic …
breast and ovarian cancer, and there remains a need to identify the specific genomic …