Sex differences in oncogenic mutational processes [PDF]
Nature Communications, 2020 There’s an emerging body of evidence to show how biological sex impacts cancer incidence, treatment and underlying biology. Here, using a large pan-cancer dataset, the authors further highlight how sex differences shape the cancer genome.
Constance H. Li +7 more
doaj +31 more sources
Sequence dependencies and mutation rates of localized mutational processes in cancer [PDF]
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 +4 more
doaj +7 more sources
Divergent mutational processes distinguish hypoxic and normoxic tumours [PDF]
Nature Communications, 2020 Many tumours exhibit hypoxia (low oxygen) and hypoxic tumours often respond poorly to therapy. Here, the authors quantify hypoxia in 1188 tumours from 27 cancer types, showing elevated hypoxia links to increased mutational load, directing evolutionary ...
Vinayak Bhandari +4 more
doaj +5 more sources
Integrative analysis of mutated genes and mutational processes reveals novel mutational biomarkers in colorectal cancer [PDF]
BMC Bioinformatics, 2022 Background Colorectal cancer (CRC) is one of the leading causes of cancer-related deaths worldwide. Recent studies have observed causative mutations in susceptible genes related to colorectal cancer in 10 to 15% of the patients.
Hamed Dashti +7 more
doaj +5 more sources
Hotspot propensity across mutational processes. [PDF]
Mol Syst Biol, 2023 The ability to study mutation rate variability at nucleotide resolution is impaired by the sparsity of observed mutational events across the genome. To circumvent this problem, here we investigated the propensity of 14 different mutational processes to ...
Arnedo-Pac C +3 more
europepmc +6 more sources
Mutational processes in cancer preferentially affect binding of particular transcription factors [PDF]
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 +4 more
doaj +3 more sources
MutationalPatterns: the one stop shop for the analysis of mutational processes [PDF]
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 +9 more
doaj +3 more sources
Analysis of Mutations and Dysregulated Pathways Unravels Carcinogenic Effect and Clinical Actionability of Mutational Processes [PDF]
Frontiers in Cell and Developmental Biology, 2021 Somatic mutations accumulate over time in cancer cells as a consequence of mutational processes. However, the role of mutational processes in carcinogenesis remains poorly understood.
Zedong Jiang +14 more
doaj +3 more sources
Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer. [PDF]
PLoS Genet, 2020 Cancer genomes with mutations in the exonuclease domain of Polymerase Epsilon (POLE) present with an extraordinarily high somatic mutation burden. In vitro studies have shown that distinct POLE mutants exhibit different polymerase activity and yet, how ...
Fang H +5 more
europepmc +3 more sources
Signatures of mutational processes in human cancer [PDF]
Nature, 2013 All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been
Ludmil B Alexandrov +2 more
exaly +13 more sources