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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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| 4. |
- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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| 5. |
- Gowers, SG, et al.
(författare)
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Treatment aims and philosophy in the treatment of adolescent anorexia nervosa in Europe
- 2002
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Ingår i: European Eating Disorders Review. - : Wiley. - 1072-4133. ; 10:4, s. 271-280
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Tidskriftsartikel (refereegranskat)abstract
- This study describes the range of service provision and explores differences in treatment approaches and therapeutic aims, in the 12 countries participating in the European Union collaborative COST B6 Adolescent Project into the treatment of adolescent anorexia nervosa (AN). Following a number of group meetings, two questionnaires were administered, completed and returned by e-mail. The first questionnaire examined features of the services provided, including details of the numbers of patients seen, inpatient admission criteria and aspects of patient management. The second questionnaire contained a list Of 13 therapeutic aims, asking respondents to rank in order the six they considered most important in the first weeks of treatment. There was broad agreement between services concerning the need to offer a full spectrum of services in a range of settings. Nevertheless, there were significant differences in approaches, chiefly concerning the readiness to admit to hospital, the use of (individual or family) day units and the focus on weight restoration as opposed to therapeutic engagement. Copyright (C) 2002 John Wiley & Sons, Ltd and Eating Disorders Association.
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| 7. |
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| 8. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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