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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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- Linseisen, J, et al.
(författare)
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Consumption of added fats and oils in the European Prospective Investigation into Cancer and Nutrition (EPIC) centres across 10 European countries as assessed by 24-hour dietary recalls
- 2002
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Ingår i: Public Health Nutrition. - 1475-2727. ; 5:6B, s. 1227-1242
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To evaluate the consumption of added fats and oils across the European centres and countries participating in the European Prospective Investigation into Cancer and Nutrition (EPIC). Design and setting: 24-Hour dietary recalls were collected by means of standardised computer-guided interviews in 27 redefined EPIC centres across 10 European countries. Subjects: From an initial number of 36 900 subjects, single dietary recalls from 22 924 women and 13 031 men in the age range of 35-74 years were included. Results: Mean daily intake of added fats and oils varied between 16.2 g (Varese, Italy) and 41.1 g (Malmo, Sweden) in women and between 24.7 g (Ragusa, Italy) and 66.0 g (Potsdam, Germany) in men. Total mean lipid intake by consumption of added fats and oils, including those used for sauce preparation, ranged between 18.3 (Norway) and 37.2 g day(-1) (Greece) in women and 28.4 (Heidelberg, Germany) and 51.2 g day(-1) (Greece) in men. The Mediterranean EPIC centres with high olive oil consumption combined with low animal fat intake contrasted with the central and northern European centres where fewer vegetable oils, more animal fats and a high proportion of margarine were consumed. The consumption of added fats and oils of animal origin was highest in the German EPIC centres, followed by the French. The contribution of added fats and oils to total energy intake ranged from 8% in Norway to 22% in Greece. Conclusions: The results demonstrate a high variation in dietary intake of added fats Oil and oils in EPIC, providing a good opportunity to elucidate the role of dietary fats in cancer aetiology.
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- Slimani, N, et al.
(författare)
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Diversity of dietary patterns observed in the European Prospective Investigation into Cancer and Nutrition (EPIC) project
- 2002
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Ingår i: Public Health Nutrition. - 1475-2727. ; 5:6B, s. 1311-1328
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Tidskriftsartikel (refereegranskat)abstract
- Objective.. To describe the diversity in dietary patterns existing across centres/regions participating in the European Prospective Investigation into Cancer and Nutrition (EPIC). Design and setting.. Single 24-hour dietary recall measurements were obtained by means of standardised face-to-face interviews using the EPIC-SOFT software. These have been used to present a graphic multi-dimensional comparison of the adjusted mean consumption of 22 food groups. Subjects: In total, 35 955 men and women, aged 35-74 years, participating in the EPIC nested calibration study. Results.. Although wide differences were observed across centres, the countries participating in EPIC are characterised by specific dietary patterns. Overall, Italy and Greece have a dietary pattern characterised by plant foods (except potatoes) and a lower consumption of animal and processed foods, compared with the other EPIC countries. France and particularly Spain have more heterogeneous dietary patterns, with a relatively high consumption of both plant foods and animal products. Apart from characteristics specific to vegetarian groups, the UK 'health-conscious' group shares with the UK general population a relatively high consumption of tea, sauces, cakes, soft drinks (women), margarine and butter. In contrast, the diet in the Nordic countries, The Netherlands, Germany and the UK general population is relatively high in potatoes and animal, processed and sweetened/refined foods, with proportions varying across countries/centres. In these countries, consumption of vegetables and fruit is similar to, or below, the overall EPIC means, and is low for legumes and vegetable oils. Overall, dietary patterns were similar for men and women, although there were large gender differences for certain food groups. Conclusions: There are considerable differences in food group consumption and dietary patterns among the EPIC study populations. This large heterogeneity should be an advantage when investigating the relationship between diet and cancer and formulating new aetiological hypotheses related to dietary patterns and disease.
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