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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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- Oku, T, et al.
(författare)
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Modulated structure of Ag2SnO3 studied by high-resolution electron microscopy
- 2000
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Ingår i: Acta Crystallographica. Section B: Structural Science. - 0108-7681. ; 56:3, s. 363-368
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Tidskriftsartikel (refereegranskat)abstract
- The modulated structure of Ag2SnO3, disilver tin trioxide, was investigated by high-resolution electron microscopy and electron diffraction along four different directions. Electron diffraction showed an incommensurate one-dimensional modulated structure with a modulation wavevector of 1/6.4a*. High-resolution images showed a large number of superstructure domains with the size range 10-100 nm and orientations related by hexagonal rotation. The modulation was determined to be displacements along the c axis of the Ag atoms both in octahedral and linear coordination. An approximate structure model with a commensurate sixfold superstructure, with an orthorhombic cell (P2(1)2(1)2(1), a = 2.922, b = 1.267, c = 0.562 nm), is proposed. Calculated images and electron diffraction patterns, based on this model, agree well with experimental observations.
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