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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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- Pietri, S., et al.
(författare)
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First Results from the Stopped Beam Isomer RISING Campaign at GSI
- 2007
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 38:4, s. 1255-1264
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Tidskriftsartikel (refereegranskat)abstract
- The first results from a series of experiments focused on the study of the internal structure of nuclei at the extremes of N:Z ratio using isomer spectroscopy are reported. These experiments represent the first of the Stopped Beam section of the Rare Isotopes Investigations at GSI (RISING) project. Exotic nuclei were synthesized using relativistic projectile fragmentation of similar to 500 -> 1000 MeV/u beams of Ag-107, Pb-208, Xe-136 and Ni-58, or fission of 750 MeV/u U-238 provided by the SIS synchrotron at GSI. A detailed description of the RISING stopped beam set up is given, together with a report of the performance of the associated gamma-ray spectrometer array. Selected results of the first experimental campaign are presented together with a discussion on the use of isomeric spectroscopy to study GeV range nuclear fragmentation. Details on future research plans of this collaboration are also outlined.
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- Schlegel, C, et al.
(författare)
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K-isomers in very neutron-rich nuclei around mass 180
- 2000
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Ingår i: Physica Scripta. Topical Issues. - 0281-1847. ; T88, s. 72-76
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Tidskriftsartikel (refereegranskat)abstract
- gamma-spectroscopy methods have been used to search for microsecond isomers among the fragmentation products of a 1 GeV/nucleon Pb-208 beam. In particular the population of the known K-pi = 35/2(-) isomer in W-179 has been investigated and several new isomeric decays have been found for neutron rich nuclei in the A approximate to 180-200 mass region. The ground state band of the neutron rich N = 116 system of W-190 has been identified for the first time and we discuss its structure in comparison to neighboring systems.
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- Banu, A, et al.
(författare)
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108Sn Studied with Intermediate-energy Coulomb Excitation
- 2005
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813. ; 72:6
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Tidskriftsartikel (refereegranskat)abstract
- The unstable neutron-deficient Sn-108 isotope has been studied in inverse kinematics by intermediate-energy Coulomb excitation using the RISING/FRS experimental setup at GSI. This is the highest Z nucleus studied so far with this method. Its reduced transition probability B (E2;0(g.s.)(+)-> 2(1)(+)) has been measured for the first time. The extracted B(E2) value of 0.230(57)e(2) b(2) has been determined relative to the known value in the stable Sn-112 isotope. The result is discussed in the framework of recent large-scale shell model calculations performed with realistic effective interactions. The roles of particle-hole excitations of the Sn-100 core and of the Z=50 shell gap for the E2 polarization are investigated.
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| 11. |
- Bednarczyk, P, et al.
(författare)
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Status of the RISING Project at Relativistic Energies
- 2005
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 36:4, s. 1235-1244
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Tidskriftsartikel (refereegranskat)abstract
- The RISING project was designed to perform high-resolution gamma-ray spectroscopy with radioactive beams at GSI. Unstable beams were produced by fragmentation of relativistic heavy ion projectiles provided by the SIS synchrotron. The fragment separator FRS was used to select and to focus the exotic fragments at about 100A MeV energy on a secondary target. Various charged particle detectors enabled an event-by-event tracking of the incoming radioactive projectiles and the reaction products, thus allowing for a selection of the nuclei of interest and their velocity vector reconstruction. The gamma-ray detection system consisting of the EUROBALL Cluster Ge detectors and the large volume HECTOR BaF2 detectors measured prompt gamma-radiation from nuclei excited in the secondary target. Despite the huge Doppler shift due to the high recoil velocity (beta approximate to 40%), RISING achieved a gamma-energy resolution below 2%. The paper reviews the present status of the RISING project.
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- Wollersheim, HJ, et al.
(författare)
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Rare ISotopes INvestigation at GSI (RISING) Using Gamma-ray Spectroscopy at Relativistic Energies
- 2005
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 537:3, s. 637-657
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Tidskriftsartikel (refereegranskat)abstract
- The Rare ISotopes INvestigation at GSI project combines the former EUROBALL Ge-Cluster detectors, the MINIBALL Ge detectors, BaF2--HECTOR detectors, and the fragment separator at GSI for high-resolution in-beam gamma-ray spectroscopy measurements with radioactive beams. These secondary beams produced at relativistic energies are used for Coulomb excitation or secondary fragmentation experiments in order to explore the nuclear structure of the projectiles or projectile like nuclei by measuring de-excitation photons. The newly designed detector array is described and the performance characteristics are given. Moreover, particularities of the experimental technique are discussed.
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| 37. |
- Faestermann, T, et al.
(författare)
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Decay studies of N approximate to Z nuclei from Sr-75 to Sn-102
- 2002
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Ingår i: European Physical Journal A. Hadrons and Nuclei. - : Springer Science and Business Media LLC. - 1434-6001. ; 15:1-2, s. 185-188
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Tidskriftsartikel (refereegranskat)abstract
- Neutron deficient nuclei near Sn-100 have been produced by fragmentation of a 1 (.) A GeV Sn-112 beam. The fragments were separated, identified and stopped in a highly segmented silicon strip detector stack. This detector measured the total energy of emitted beta(+)-particles. gamma-radiation was measured with surrounding detectors. The half-lives for many nuclides have been determined for the first time and give important information for the following topics: For the heaviest particle-stable odd-odd nuclei Rh-90, Ag-94 and In-98 we observed for the first time fast beta-decays, compatible with superallowed Fermi transitions and confirmed such decays for 78y, 82 Nb and Tc. We have also observed 'long-lived T = 0 states in some of these nuclei. We measured the half-lives of all rp-process waiting-point nuclei from _Zr up to addition we find the proton drip line nucleus Y-77 to decay dominantly via beta-decay, To study the Gamov-Teller strength in the beta-decay near the doubly magic Sn-102 we measured the half-life, beta- and gamma-spectrum of Sn-102. We propose a level scheme for the daughter nuclide In-102 and deduce the Qamov-Teller strength (B-GT = 4.0 +/- 0.6). This is one of the largest values known.
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| 38. |
- Fenaux, P, et al.
(författare)
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A randomized phase 3 study of lenalidomide versus placebo in RBC transfusion-dependent patients with Low-/Intermediate-1-risk myelodysplastic syndromes with del5q
- 2011
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Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 118:14, s. 3765-3776
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Tidskriftsartikel (refereegranskat)abstract
- This phase 3, randomized, double-blind study assessed the efficacy and safety of lenalidomide in 205 red blood cell (RBC) transfusion-dependent patients with International Prognostic Scoring System Low-/Intermediate-1-risk del5q31 myelodysplastic syndromes. Patients received lenalidomide 10 mg/day on days 1-21 (n = 69) or 5 mg/day on days 1-28 (n = 69) of 28-day cycles; or placebo (n = 67). Crossover to lenalidomide or higher dose was allowed after 16 weeks. More patients in the lenalidomide 10- and 5-mg groups achieved RBC-transfusion independence (TI) for ≥ 26 weeks (primary endpoint) versus placebo (56.1% and 42.6% vs 5.9%; both P < .001). Median duration of RBC-TI was not reached (median follow-up, 1.55 years), with 60% to 67% of responses ongoing in patients without progression to acute myeloid leukemia (AML). Cytogenetic response rates were 50.0% (10 mg) versus 25.0% (5 mg; P = .066). For the lenalidomide groups combined, 3-year overall survival and AML risk were 56.5% and 25.1%, respectively. RBC-TI for ≥ 8 weeks was associated with 47% and 42% reductions in the relative risks of death and AML progression or death, respectively (P = .021 and .048). The safety profile was consistent with previous reports. Lenalidomide is beneficial and has an acceptable safety profile in transfusion-dependent patients with Low-/Intermediate-1-risk del5q myelodysplastic syndrome. This trial was registered at www.clinicaltrials.gov as #NCT00179621.
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| 45. |
- Hammond, G, et al.
(författare)
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Spectroscopy of T=3/2 Mirror Nuclei via Two-step Fragmentation using RISING
- 2005
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Ingår i: Acta Physica Polonica. Series B: Elementary Particle Physics, Nuclear Physics, Statistical Physics, Theory of Relativity, Field Theory. - 0587-4254. ; 36:4, s. 1253-1257
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Tidskriftsartikel (refereegranskat)abstract
- Two two-step fragmentation reactions were performed using RISING to populate excited states in A approximate to 50 mirror nuclei near to the proton-drip line, in order to test isospin symmetry. The experiments were designed to observe gamma decays of excited states in the mirror nuclei Ni-53(28)25/Mn-53(25)28, which have a large value of total isospin (T = 3/2). In the continuing off-line analysis, gamma transitions have been observed in Ni-54 indicating that two-step fragmentation is a successful technique for spectroscopic investigations of proton-rich nuclear systems in this mass region.
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