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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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- 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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- 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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- Faestermann, T, et al.
(author)
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Decay studies of N approximate to Z nuclei from Sr-75 to Sn-102
- 2002
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In: 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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Journal article (peer-reviewed)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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