In-source laser spectroscopy with the laser ion source and trap: first direct study of the ground-state properties of Po-217,Po-219

D. A. Fink et al.; 15 págs.; 17 figs.; 3 tabs.; Open Access funded by Creative Commons Atribution Licence 3.0A Laser Ion Source and Trap (LIST) for a thick-target, isotope-separation on-line facility has been implemented at CERN ISOLDE for the production of pure, laser-ionized, radioactive ion beams. It offers two modes of operation, either as an ion guide, which performs similarly to the standard ISOLDE resonance ionization laser ion source (RILIS), or as a more selective ion source, where surface-ionized ions from the hot ion-source cavity are repelled by an electrode, while laser ionization is done within a radiofrequency quadrupole ion guide. The first physics application of the LIST enables the suppression of francium contamination in ion beams of neutron-rich polonium isotopes at ISOLDE by more than 1000 with a reduction in laser-ionization efficiency of only 20. Resonance ionization spectroscopy is performed directly inside the LIST device, allowing the study of the hyperfine structure and isotope shift of 217Po for the first time. Nuclear decay spectroscopy of 219Po is performed for the first time, revealing its half-life, α- to-β-decay branching ratio, and α-particle energy. This experiment demonstrates the applicability of the LIST at radioactive ion-beam facilities for the production and study of pure beams of exotic isotopes. Published by the American Physical SocietyThis work was supported by the Bundesministerium für Bildung und Forschung (BMBF, Germany) within the Wolfgang- Gentner programme as well as through the consecutive project fundings of 06Mz9181I, 06Mz7177D, and 05P12UMCIA, by FWO-Vlaanderen (Belgium), by GOA/2010/010 (BOF-KULeuven), by the IUAP-Belgian State Belgian Science Policy (BRIX network P7/12), by the U.K. Science and Technology Facilities Council (STFC), by the European Union within FP7 (ENSAR No. 262010), by the Slovak Research and Development Agency (Contract No. APVV-0105-10), by the Slovak grant agency VEGA, and the Reimei Foundation of JAEA (Contract No. 1/0576/13). T. E. C. was supported by STFC Ernest Rutherford Grant No. ST/J004189/1.Peer Reviewe

Two truncating variants in FANCC and breast cancer risk

Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95% CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.Peer reviewe

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

Italy and EMU as a 'Vincolo Esterno': empowering the technocrats, transforming the state

This case study analyses how the Italian 'core executive' operated in the negotiation of the Maastricht Treaty provisions on Economic and Monetary Union. The record of the Italian negotiators on EMU is examined in the framework of a 'two-level' bargaining game. It argues that policy was largely driven by a small technocratic elite, with limited ministerial involvement. The overarching foreign policy imperatives were to maintain Italian participation at the heart of the European integration process and to reduce the asymmetry of monetary power with Germany. Domestically, however, the technocratic elite shared a belief in the need for externally-imposed economic discipline (a vincolo esterno - external constraint), to overcome the problems posed by the partitocrazia - the domination of government by parties. EMU was used to effect domestic reform by redistributing power. In the process they unleashed powerful transformative effects on the Italian state. The domestic effects of EMU were thus much more far-reaching than the Italian impact at the European level on the final EMU agreement

"THE GLOBAL-LOCAL NEXUS: NGOs AND THE ARTICULATION OF SCALE"

Non-Governmental Organisations (NGOs), such as Greenpeace, World Wide Fund for Nature (WWF), Pax Christi, Oxfam and Amnesty International, have become effective political players at different governance levels: local, regional, national and international. In addition, they have contributed to the construction of multi-level governance practices as well as to a re-articulation of scale. They have done so, among others, by 'thinking globally, acting locally'; re-conceptualising local issues into global ones (and vice versa); bringing local interests to international negotiating tables; and building up 'glocalised' networks. In this paper, three cases to illustrate these claims will be presented: (a) the Biodiversity Convention; (b) the human rights regime; and (c) the Forest Stewardship Council (FSC). As a general conclusion, the effects of these non-state, de-territorialised and 'glocalised' practices on the role and authority of the nation state will be (shortly) assessed. It will be claimed that we do not observe a 'general retreat of the state', but issue-specific re-definitions of its role and authority. Copyright (c) 2004 by the Royal Dutch Geographical Society KNAG.