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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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- 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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- 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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- Banu, A, et al.
(author)
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108Sn Studied with Intermediate-energy Coulomb Excitation
- 2005
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In: Physical Review C (Nuclear Physics). - 0556-2813. ; 72:6
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Journal article (peer-reviewed)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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