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- Campbell, PJ, et al.
(author)
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Pan-cancer analysis of whole genomes
- 2020
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Journal article (peer-reviewed)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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- Schlegel, C, et al.
(author)
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K-isomers in very neutron-rich nuclei around mass 180
- 2000
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In: Physica Scripta. Topical Issues. - 0281-1847. ; T88, s. 72-76
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Journal article (peer-reviewed)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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- Klimkiewicz, A., et al.
(author)
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Pygmy Dipole Strength in Exotic Nuclei and the Equation of State
- 2009
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In: AIP Conference Proceedings. - 1551-7616 .- 0094-243X. ; 1165, s. 181-184 461
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Conference paper (peer-reviewed)abstract
- A concentration of dipole strength at energies below the giant dipole resonance was observed in neutron-rich nuclei around Sn-132 in an experiment using the FRS-LAND setup. This so-called "pygmy" dipole strength can be related to the parameters of the symmetry energy and to the neutron skin thickness on the grounds of a relativistic quasiparticle random-phase approximation. Using this ansatz and the experimental findings for Sn-130 and 132 Sri, we derive a value of the symmetry energy pressure of (p) over bar (0) = 2.2 +/- 0.5 MeV/fm(3). Neutron skin thicknesses of R-n-R-p = 0.23 +/- 0.03 fm and 0.24 +/- 0.03 fm for Sn-130 and Sn-132, respectively, have been determined. Preliminary results on Ni-68 from a similar experiment using an improved setup indicate an enhanced cross section at low energies, while the results for Ni-58 are in accordance with results from photoabsorption measurements.
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| 13. |
- Pawlowski, P., et al.
(author)
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Neutron recognition in the LAND detector for large neutron multiplicity
- 2012
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In: Nuclear Instruments and Methods in Physics Research, Section A: Accelerators, Spectrometers, Detectors and Associated Equipment. - : Elsevier BV. - 0168-9002. ; 694, s. 47-54
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Journal article (peer-reviewed)abstract
- The performance of the LAND neutron detector is studied. Using an event-mixing technique based on one-neutron data obtained in the S107 experiment at the GSI laboratory, we test the efficiency of various analytic tools used to determine the multiplicity and kinematic properties of detected neutrons. A new algorithm developed recently for recognizing neutron showers from spectator decays in the ALADIN experiment S254 is described in detail. Its performance is assessed in comparison with other methods. The properties of the observed neutron events are used to estimate the detection efficiency of LAND in this experiment. (C) 2012 Elsevier B.V. All rights reserved.
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| 14. |
- Pietri, S., et al.
(author)
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First Results from the Stopped Beam Isomer RISING Campaign at GSI
- 2007
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In: 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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Journal article (peer-reviewed)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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- Nannya, Y, et al.
(author)
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Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms
- 2023
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In: Blood advances. - : American Society of Hematology. - 2473-9537 .- 2473-9529. ; 7:14, s. 3624-3636
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Journal article (peer-reviewed)abstract
- Azacitidine is a mainstay of therapy for MDS-related diseases. The purpose of our study is to elucidate the effect of gene mutations on hematological response and overall survival (OS), particularly focusing on their post-treatment clone size. We enrolled a total of 449 patients with MDS or related myeloid neoplasms. They were analyzed for gene mutations in pre- (n=449) and post- (n=289) treatment bone marrow samples using targeted-capture sequencing to assess the impact of gene mutations and their post-treatment clone size on treatment outcomes. In Cox proportional hazard modeling, multi-hit TP53 mutation (HR, 2.03; 95% CI, 1.42-2.91; P<.001), EZH2 mutation (HR, 1.71; 95% CI, 1.14-2.54; P=.009), and DDX41 mutations (HR, 0.33; 95% CI, 0.17-0.62; P<.001), together with age, high-risk karyotypes, low platelet, and high blast counts, independently predicted OS. Post-treatment clone size accounting for all drivers significantly correlated with International Working Group (IWG)-response (P<.001, trend test), except for that of DDX41-mutated clones, which did not predict IWG-response. Combined, IWG-response and post-treatment clone size further improved the prediction of the original model and even that of a recently proposed molecular prediction model, IPSS-M (c-index, 0.653 vs 0.688; P<.001, likelihood ratio test). In conclusion, evaluation of post-treatment clone size, together with pre-treatment mutational profile as well as IWG-response have a role in better prognostication of azacitidine-treated myelodysplasia patients.
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| 20. |
- Wollersheim, HJ, et al.
(author)
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Rare ISotopes INvestigation at GSI (RISING) Using Gamma-ray Spectroscopy at Relativistic Energies
- 2005
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In: 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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Journal article (peer-reviewed)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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| 21. |
- Aleksandrov, D., et al.
(author)
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Invariant mass spectrum and alpha-n correlation function studied in the fragmentation of He-6 on a carbon target
- 1998
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In: Nuclear Physics A. - 0375-9474. ; 633:2, s. 234-246
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Journal article (peer-reviewed)abstract
- Momentum distributions and invariant mass spectra from the breakup of He-6 ions with an energy of 240 MeV/u interacting with a carbon target have been studied. The data were used to extract information about the reaction mechanism which is influenced by the structure of He-6. It is found that the dominant reaction mechanism is a two-step process: knock out of one neutron followed by the decay of the He-5 resonance. The shape of the (alpha+n) two-body invariant mass spectrum is interpreted as mainly reflecting the 5He ground state which is a J(pi) = 3/2(-) resonance. However, no evidence for correlations between cu particles and neutrons is observed in the momentum widths of the distributions. It is demonstrated that a combined analysis of the two-body invariant mass spectrum and an appropriate correlation function may be used to determine the properties of the intermediate resonance. (C) 1998 Elsevier Science B.V.
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| 22. |
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| 23. |
- Chulkov, L. V., et al.
(author)
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Large spin alignment of the unbound He-5 fragment after fragmentation of 240 MeV/nucleon He-6
- 1997
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In: Physical Review Letters. - 1079-7114 .- 0031-9007. ; 79:2, s. 201-204
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Journal article (peer-reviewed)abstract
- Peripheral fragmentation of a 240 MeV/nucleon beam of the halo nucleus He-6 incident on carbon target has been studied in a kinematically complete experiment. It is found that one-neutron stripping to the unbound nucleus He-5 is the dominant fragmentation mechanism and that it leads to a spin alignment of He-5 in a plane perpendicular to the He-5 momentum vector. This is expected to be a common feature for all neutron halo nuclei.
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