Mutational Processes Shaping the Genome in Early Human Embryos
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DOI: 10.1016/j.cell.2017.02.008
Abstract: In-vitro-fertilized human embryos often acquire large structural and numerical chromosomal abnormalities. Liu et al. now show that multiple smaller copy number variations may also arise in in-vivo-conceived embryos. Analysis of these variations provides insight into the… read more here.
Keywords: human embryos; early human; shaping genome; genome early ... See more keywords
Divergent mutational processes distinguish hypoxic and normoxic tumours
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DOI: 10.1038/s41467-019-14052-x
Abstract: 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 mutational… read more here.
Keywords: cancer types; hypoxic; hypoxia; mutational processes ... See more keywords
Mapping clustered mutations in cancer reveals APOBEC3 mutagenesis of ecDNA
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DOI: 10.1038/s41586-022-04398-6
Abstract: Clustered somatic mutations are common in cancer genomes and previous analyses reveal several types of clustered single-base substitutions, which include doublet- and multi-base substitutions1–5, diffuse hypermutation termed omikli6, and longer strand-coordinated events termed kataegis3,7–9. Here… read more here.
Keywords: cancer; base substitutions; clustered mutations; mutational processes ... See more keywords
Mutational processes in cancer preferentially affect binding of particular transcription factors
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DOI: 10.1038/s41598-021-82910-0
Abstract: 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. There has also been… read more here.
Keywords: mutational processes; affect binding; preferentially affect; binding particular ... See more keywords
Attribution of Cancer Origins to Endogenous, Exogenous, and Preventable Mutational Processes
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DOI: 10.1093/molbev/msac084
Abstract: Abstract Mutational processes in tumors create distinctive patterns of mutations, composed of neutral “passenger” mutations and oncogenic drivers that have quantifiable effects on the proliferation and survival of cancer cell lineages. Increases in proliferation and… read more here.
Keywords: cancer origins; mutational processes; attribution cancer; endogenous exogenous ... See more keywords
Genetic Determinants of Somatic Selection of Mutational Processes in 3,566 Human Cancers
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DOI: 10.1158/0008-5472.can-21-0086
Abstract: The genetic determinants of the somatic mutational processes in cancer elucidate the biology underlying somatic selection and evolution of cancers and demonstrate complementary predictive power across cancer types. The somatic landscape of the cancer genome… read more here.
Keywords: biology; cancer; somatic selection; genetic determinants ... See more keywords
Cancer Mutational Processes Vary in Their Association with Replication Timing and Chromatin Accessibility
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DOI: 10.1158/0008-5472.can-21-2039
Abstract: Many mutational processes associate with early or late replication timing regions independently of chromatin accessibility, enabling development of a focused identification approach to improve mutational signature detection. Cancer somatic mutations are the product of multiple… read more here.
Keywords: replication; cancer; replication timing; mutational processes ... See more keywords
Abstract AP09: COPY-NUMBER SIGNATURES AND MUTATIONAL PROCESSES IN HIGH GRADE SEROUS OVARIAN CARCINOMA
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Cancer Research"
DOI: 10.1158/1557-3265.ovcasymp18-ap09
Abstract: BACKGROUND: The genomic complexity of profound copy-number aberration has prevented effective molecular stratification of high grade serous ovarian carcinoma (HGSOC). Recent algorithmic advances have enabled interpretation of complex genomic changes by identifying mutational signatures—genomic patterns… read more here.
Keywords: high grade; number; copy number; mutational processes ... See more keywords
decompTumor2Sig: identification of mutational signatures active in individual tumors
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DOI: 10.1186/s12859-019-2688-6
Abstract: BackgroundThe somatic mutations found in a tumor have in most cases been caused by multiple mutational processes such as those related to extrinsic carcinogens like cigarette smoke, and those related to intrinsic processes like age-related… read more here.
Keywords: identification mutational; decomptumor2sig identification; somatic mutations; mutational processes ... See more keywords
Integrative analysis of mutated genes and mutational processes reveals novel mutational biomarkers in colorectal cancer
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DOI: 10.1186/s12859-022-04652-8
Abstract: 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. This… read more here.
Keywords: mutated genes; cancer; integrative analysis; analysis mutated ... See more keywords
Chromatin accessibility of primary human cancers ties regional mutational processes and signatures with tissues of origin
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DOI: 10.1371/journal.pcbi.1010393
Abstract: Somatic mutations in cancer genomes are associated with DNA replication timing (RT) and chromatin accessibility (CA), however these observations are based on normal tissues and cell lines while primary cancer epigenomes remain uncharacterised. Here we… read more here.
Keywords: cancer; mutational processes; normal tissues; regional mutational ... See more keywords