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Sökning: WFRF:(Jacquot Mathilde)

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1.
  • Lawrenson, Kate, et al. (författare)
  • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
  • 2016
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
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2.
  • Werner, Kirstin, et al. (författare)
  • Arctic in Rapid Transition : Priorities for the future of marine and coastal research in the Arctic
  • 2016
  • Ingår i: Polar Science. - : Elsevier BV. - 1873-9652 .- 1876-4428. ; 10:3, s. 364-373
  • Tidskriftsartikel (refereegranskat)abstract
    • Understanding and responding to the rapidly occurring environmental changes in the Arctic over the past few decades require new approaches in science. This includes improved collaborations within the scientific community but also enhanced dialogue between scientists and societal stakeholders, especially with Arctic communities. As a contribution to the Third International Conference on Arctic Research Planning (ICARPIII), the Arctic in Rapid Transition (ART) network held an international workshop in France, in October 2014, in order to discuss high-priority requirements for future Arctic marine and coastal research from an early-career scientists (ECS) perspective. The discussion encompassed a variety of research fields, including topics of oceanographic conditions, sea-ice monitoring, marine biodiversity, land-ocean interactions, and geological reconstructions, as well as law and governance issues. Participants of the workshop strongly agreed on the need to enhance interdisciplinarity in order to collect comprehensive knowledge about the modern and past Arctic Ocean's geo-ecological dynamics. Such knowledge enables improved predictions of Arctic developments and provides the basis for elaborate decision-making on future actions under plausible environmental and climate scenarios in the high northern latitudes. Priority research sheets resulting from the workshop's discussions were distributed during the ICARPIII meetings in April 2015 in Japan, and are publicly available online. (C) 2016 Elsevier B.V. and NIPR. All rights reserved.
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