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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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- Berg, CK, et al.
(författare)
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Psychosocial factors associated with broadly defined bulimia nervosa during early pregnancy: findings from the Norwegian Mother and Child Cohort Study
- 2008
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Ingår i: The Australian and New Zealand journal of psychiatry. - : SAGE Publications. - 1440-1614 .- 0004-8674. ; 42:5, s. 396-404
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The purpose of the present study was to investigate the relationship between psychosocial characteristics and broadly defined bulimia nervosa during early pregnancy, including factors associated with continuation, incidence and remission. Method: A total of 41 157 women completed questionnaires at approximately gestation week 18, including items on eating disorders and psychosocial characteristics as a part of Norwegian Mother and Child Cohort Study conducted by the Norwegian Institute of Public Health. Results: Incident bulimia nervosa during the first trimester was significantly associated with symptoms of anxiety and depression and low self-esteem and life satisfaction, whereas remission was significantly associated with higher self-esteem and life satisfaction. Continuation was not significantly related to any of the psychosocial variables tested. Conclusion: Onset of bulimia nervosa during pregnancy is associated with mood and anxiety symptoms. Remission of bulimic symptoms and new onset of bulimia nervosa are associated with opposite profiles of self-esteem, and life satisfaction measures.
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