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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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- Abbafati, Cristiana, et al.
(författare)
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- 2020
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Tidskriftsartikel (refereegranskat)
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| 6. |
- Adlarson, Patrik, et al.
(författare)
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Differential cross sections for neutron-proton scattering in the region of the d* (2380) dibaryon resonance
- 2020
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Ingår i: Physical Review C. Nuclear Physics. - : AMER PHYSICAL SOC. - 0556-2813 .- 1089-490X. ; 102:1
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Tidskriftsartikel (refereegranskat)abstract
- Differential cross sections have been extracted from exclusive and kinematically complete high-statistics measurements of quasifree polarized (n) over barp scattering performed in the energy region of the d* (2380) dibaryon resonance covering the range of beam energies T-n = 0.98-1.29 GeV (root s = 2.32-2.44 GeV). The experiment was carried out with the WASA-at-COSY setup having a polarized deuteron beam impinged on the hydrogen pellet target and utilizing the quasifree process dp -> np + p(spectator). In this way the np differential cross section sigma (Theta) was measured over a large angular range. The obtained angular distributions complement the corresponding analyzing power A(y)(Theta) measurements published previously. A SAID partial-wave analysis incorporating the new data strengthens the finding of a resonance pole in the coupled D-3(3) - (3)G(3) waves.
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| 7. |
- Adlarson, Patrik, et al.
(författare)
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Three-nucleon dynamics in dp breakup collisions using the WASA detector at COSY-Julich
- 2020
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Ingår i: Physical Review C. - 2469-9985 .- 2469-9993. ; 101:4
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Tidskriftsartikel (refereegranskat)abstract
- The differential cross section for the H-1(d, pp)n breakup reaction at deuteron beam energy of 340 MeV has been measured with the use of the WASA detector at COSY-Jillich. The set of proton-proton coincidences registered at the Forward Detector has been analyzed on a dense grid of kinematic variables, giving in total around 5600 data points. The cross-section data are compared to theoretical predictions based on the state-ofthe-art nucleon-nucleon potentials, combined with a three-nucleon force or the Coulomb interaction or carried out in a relativistic regime.
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| 8. |
- Adlarson, Patrik, et al.
(författare)
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Search for the eta mesic He-3 in the pd -> dp pi(0) reaction with the WASA-at-COSY facility
- 2020
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Ingår i: Physical Review C. Nuclear Physics. - : AMER PHYSICAL SOC. - 0556-2813 .- 1089-490X. ; 102:4
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Tidskriftsartikel (refereegranskat)abstract
- The excitation function for the pd -> dp pi(0) reaction has been measured byWASA-at-COSY experiment with the aim of searching for He-3-h mesic nuclei. The measurement in the vicinity of h meson production was performed using a ramped proton beam. The data analysis and interpretation was carried out with the assumption that the h mesic helium decays via the formation of an intermediate N*(1535) resonance. No direct signal of the. mesic nucleus is observed in the excitation function. We determine a new improved upper limit for the total cross section for the bound state production and decay in the pd -> (He-3-eta)(bound) -> dp pi(0) process. It varies between 13 nb to 24 nb for the bound state with width in the range Gamma is an element of ( 5, 50) MeV.
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- Adlarson, Patrik, et al.
(författare)
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Search for η mesic 3He with the WASA-at-COSY facility in the pd -> 3He2γ and pd -> 3He6γ reaction
- 2020
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 802
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Tidskriftsartikel (refereegranskat)abstract
- We report on the experimental search for the bound state of an eta meson and He-3 nucleus performed using the WASA-at-COSY detector setup. In order to search for the eta-mesic nucleus decay, the pd -> (3)He2(gamma) and pd -> (3)He6 gamma channels have been analysed. These reactions manifest the direct decay of the ti meson bound in a He-3 nucleus. This non-mesonic decay channel has been considered for the first time. When taking into account only statistical errors, the obtained excitation functions reveal a slight indication for a possible bound state signal corresponding to a He-3-eta nucleus width Gamma above 20 MeV and binding energy B-s between 0 and 15 MeV. However, the determined cross sections are consistent with zero in the range of the systematic uncertainty. Therefore, as final result we estimate only the upper limit for the cross section of the eta-mesic He-3 nucleus formation followed by the eta meson decay which varies between 2 nb and 15 nb depending on possible bound state parameters.
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- Heath, A. K., et al.
(författare)
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Nutrient-wide association study of 92 foods and nutrients and breast cancer risk
- 2020
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Ingår i: Breast Cancer Research. - : Springer Science and Business Media LLC. - 1465-5411 .- 1465-542X. ; 22:1
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Tidskriftsartikel (refereegranskat)abstract
- Background Several dietary factors have been reported to be associated with risk of breast cancer, but to date, unequivocal evidence only exists for alcohol consumption. We sought to systematically assess the association between intake of 92 foods and nutrients and breast cancer risk using a nutrient-wide association study. Methods Using data from 272,098 women participating in the European Prospective Investigation into Cancer and Nutrition (EPIC) study, we assessed dietary intake of 92 foods and nutrients estimated by dietary questionnaires. Cox regression was used to quantify the association between each food/nutrient and risk of breast cancer. A false discovery rate (FDR) of 0.05 was used to select the set of foods and nutrients to be replicated in the independent Netherlands Cohort Study (NLCS). Results Six foods and nutrients were identified as associated with risk of breast cancer in the EPIC study (10,979 cases). Higher intake of alcohol overall was associated with a higher risk of breast cancer (hazard ratio (HR) for a 1 SD increment in intake = 1.05, 95% CI 1.03-1.07), as was beer/cider intake and wine intake (HRs per 1 SD increment = 1.05, 95% CI 1.03-1.06 and 1.04, 95% CI 1.02-1.06, respectively), whereas higher intakes of fibre, apple/pear, and carbohydrates were associated with a lower risk of breast cancer (HRs per 1 SD increment = 0.96, 95% CI 0.94-0.98; 0.96, 95% CI 0.94-0.99; and 0.96, 95% CI 0.95-0.98, respectively). When evaluated in the NLCS (2368 cases), estimates for each of these foods and nutrients were similar in magnitude and direction, with the exception of beer/cider intake, which was not associated with risk in the NLCS. Conclusions Our findings confirm a positive association of alcohol consumption and suggest an inverse association of dietary fibre and possibly fruit intake with breast cancer risk.
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