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- Pelikan, Daniel, 1985-
(författare)
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Searches for a Charged Higgs Boson in ATLAS and Development of Novel Technology for Future Particle Detector Systems
- 2015
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The discovery of a charged Higgs boson (H±) would be a clear indication for physics beyond the Standard Model. This thesis describes searches for charged Higgs bosons with the ATLAS experiment at CERN’s Large Hadron Collider (LHC). The first data collected during the LHC Run 1 is analysed, searching for a light charged Higgs boson (mH±<mtop), which decays predominantly into a tau-lepton and a neutrino. Different final states with one or two leptons (electrons or muons), as well as leptonically or hadronically decaying taus, are studied, and exclusion limits are set.The background arising from misidentified non-prompt electrons and muons was estimated from data. This so-called "Matrix Method'' exploits the difference in the lepton identification between real, prompt, and misidentified or non-prompt electrons and muons. The Matrix Method is used in all charged Higgs boson searches in this thesis.In 2024 the LHC will be upgraded into a High Luminosity LHC (HL-LHC). The ATLAS detector is expected to collect around 300 fb-1 of collision data until 2022, whereas the HL-LHC will deliver about 250-300 fb-1 of data per year. This will increase the mean number of interactions per bunch crossing, resulting in larger particle fluxes. This puts challenging requirements on the electronics. In order to keep trigger and data rates at manageable levels, new trigger concepts require more intelligence at early stage which possibly results in more cables and connectors, inside the detector which lead to degraded performance of the detector system.This thesis presents new concepts using wireless technology at 60 GHz, in order add more data links inside the detector system without adding much material. Patch antennas have been developed, operating at 60 GHz. Manufacture methods have been investigated, and the fabrication tolerances and bandwidth of these antennas have been studied. Also, concepts of using passive repeaters have been investigated, to make the 60 GHz signal pass boundaries. These repeaters can be used to connect intelligence inside the detector, but also for reading out data from the whole detector radially.
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- Ferreira, MA, et al.
(författare)
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1741-
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
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- Figlioli, G, et al.
(författare)
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
- 2019
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Ingår i: NPJ breast cancer. - : Springer Science and Business Media LLC. - 2374-4677. ; 5, s. 38-
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Tidskriftsartikel (refereegranskat)abstract
- Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.
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