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- Campbell, PJ, et al.
(author)
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Pan-cancer analysis of whole genomes
- 2020
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Journal article (peer-reviewed)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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- Wang, HD, et al.
(author)
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Global, regional, national, and selected subnational levels of stillbirths, neonatal, infant, and under-5 mortality, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015
- 2016
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In: Lancet (London, England). - : Elsevier. - 1474-547X .- 0140-6736. ; 388:10053, s. 1725-1774
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Journal article (peer-reviewed)
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| 13. |
- Bottner, F, et al.
(author)
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Implant migration after early weightbearing in cementless hip replacement
- 2005
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In: Clinical Orthopaedics and Related Research. - 0009-921X .- 1528-1132. ; :436, s. 132-137
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Journal article (peer-reviewed)abstract
- Twenty-nine patients (five women and 24 men) with an average age of 47 years (range, 24-59 years) had 37 total hip arthroplasties using a hydroxyapatite-coated double-wedge press-fit femoral component. All patients had a Type A bone quality. Patients were either mobilized with weightbearing as tolerated or toe-touch weightbearing for 6 weeks postoperatively. After 6 weeks all patients were advanced to weightbearing as tolerated. Radiostereometric analysis radiographs were taken at 3 days, 6 weeks, and 6 months postoperatively to measure migration of the femoral component. Radiostereometric analysis revealed no difference in stem migration between the two groups as defined by maximal total point migration. There was a difference in the vertical (proximal-distal) migration within the first 6 weeks between groups (0.81 mm versus 0.13 mm), but not afterwards (0.17 mm versus 0.18 mm). Continuous migration after 6 weeks was observed in three patients from each group. There was no loosening in either group within a 2-year followup. Weightbearing as tolerated is recommended for young patients with excellent bone quality after cementless total hip arthroplasty with a double-wedge press-fit femoral component. Level of Evidence: Diagnostic study, Level I (testing of previously developed diagnostic criteria in series of consecutive patients-with previously applied reference gold standard). See the Guidelines for Authors for a complete description of levels of evidence.
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