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Search: WFRF:(Baciu I)

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  • Adey, E.A., et al. (author)
  • Corporate social responsibility within the mining industry : case studies from across Europe and Russia
  • 2011
  • In: Proceedings of the Aachen International Mining Symposia (AIMS). - Aachen : Aachen University. ; , s. 153-170
  • Conference paper (peer-reviewed)abstract
    • Responsible mining requires a company to engage with local communities throughout all stages of their operations, from exploration phases through to post mining planning. Assessment of current and potential future social impacts allows a company to maximize the positive impacts they can have on a community, whilst minimizing negative social impacts from mining. Initiating and upholding effective stakeholder relations are key to a company`s ability to obtain and maintain their "social license" to operate. The level of interaction between mining companies and stakeholders, including local communities, varies substantially between and within countries. As part of the EU funded Framework 7 "ImpactMin" Project (Impact Monitoring of Mineral Resources Exploitation), we have examined the level of community engagement in mining and related processing industries at sites across Europe, including Romania (Rosia Montana), Sweden (Kristineberg), the UK (Cornwall), Bosnia Herzegovina (Vihovici) and Russia (Karabash, Gay and Mednogorsk). These sites reflect different stages in mining and therefore reveal a diverse range of issues and differing levels of community engagement. Our aim has been to focus not only on how practice varies, but also to try to explain the complex reasons behind the relationships that exist between mining companies and different stakeholders. Findings of questionnaires undertaken across the sites (between June - October 2010), and results of interviews and focus groups of different people linked to the mining industry, will also be discussed. The expectations that "mining" communities have of their local mining company vary substantially, directly relating to what the community believes the mine company owes them. These examples highlight that the notion of corporate social responsibility in the mining sector in Europe and Russia is fluid and changes according to the differing expectations and goals of stakeholders. We will present highlights of initial results. For example, Rosia Montana Gold Corporation, in Romania, is trying to reopen closed state gold mines. They have seen international media attention relating to campaigns by NGOs to oppose the mines reopening. Our results will help reveal what samples of different stakeholder groups really think of the mines reopening. This example contrasts distinctly with a mine in Kristineberg, Sweden, where Kristineberg village was built alongside the mine. There are now distinct issues felt within the community due to the decline in the number of people employed at the mine.
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  • Waszak, S. M., et al. (author)
  • Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
  • 2018
  • In: Lancet Oncology. - : Elsevier BV. - 1470-2045. ; 19:6, s. 785-798
  • Journal article (peer-reviewed)abstract
    • Background Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. Methods In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma. Findings We included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105 sequenced controls from ExAC and identified APC, BRCA2, PALB2, PTCH1, SUFU, and TP53 as consensus medulloblastoma predisposition genes according to our rare variant burden analysis and estimated that germline mutations accounted for 6% of medulloblastoma diagnoses in the retrospective cohort. The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for patients in the MBSHH subgroup (20% in the retrospective cohort). These estimates were replicated in the prospective clinical cohort (germline mutations accounted for 5% of medulloblastoma diagnoses, with the highest prevalence [14%] in the MBSHH subgroup). Patients with germline APC mutations developed MBWNT and accounted for most (five [71%] of seven) cases of MBWNT that had no somatic CTNNB1 exon 3 mutations. Patients with germline mutations in SUFU and PTCH1 mostly developed infant MBSHH. Germline TP53 mutations presented only in childhood patients in the MBSHH subgroup and explained more than half (eight [57%] of 14) of all chromothripsis events in this subgroup. Germline mutations in PALB2 and BRCA2 were observed across the MBSHH, MBGroup3, and MBGroup4 molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 4069) and 5-year overall survival was 65% (95% CI 5281); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes. Interpretation Genetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics. Copyright (c) 2018 The Author(s). Published by Elsevier Ltd.
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