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- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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- Samak, Dalia H., et al.
(författare)
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Developmental toxicity of carbon nanoparticles during embryogenesis in chicken
- 2020
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Ingår i: Environmental Science and Pollution Research. - : Springer Nature. - 0944-1344 .- 1614-7499. ; 27:16, s. 19058-19072
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Tidskriftsartikel (refereegranskat)abstract
- Nanoparticles (NPs) are very small particles present in a wide range of materials. There is a dearth of knowledge regarding their potential secondary effects on the health of living organisms and the environment. Increasing research attention, however, has been directed toward determining the effects on humans exposed to NPs in the environment. Although the majority of studies focus on adult animals or populations, embryos of various species are considered more susceptible to environmental effects and pollutants. Hence, research studies dealing mainly with the impacts of NPs on embryogenesis have emerged recently, as this has become a major concern. Chicken embryos occupy a special place among animal models used in toxicity and developmental investigations and have also contributed significantly to the fields of genetics, virology, immunology, cell biology, and cancer. Their rapid development and easy accessibility for experimental observance and manipulation are just a few of the advantages that have made them the vertebrate model of choice for more than two millennia. The early stages of chicken embryogenesis, which are characterized by rapid embryonic growth, provide a sensitive model for studying the possible toxic effects on organ development, body weight, and oxidative stress. The objective of this review was to evaluate the toxicity of various types of carbon black nanomaterials administered at the beginning of embryogenesis in a chicken embryo model. In addition, the effects of diamond and graphene NPs and carbon nanotubes are reviewed.
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