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Träfflista för sökning "WFRF:(Borre M) "

Sökning: WFRF:(Borre M)

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  • Dadaev, Tokhir, et al. (författare)
  • Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.
  • 2018
  • Ingår i: ; 9:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling.
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  • Stray-Pedersen, Asbjorg, et al. (författare)
  • Primary immunodeficiency diseases : Genomic approaches delineate heterogeneous Mendelian disorders
  • 2017
  • Ingår i: Journal of Allergy and Clinical Immunology. - : MOSBY-ELSEVIER. - 0091-6749 .- 1097-6825. ; 139:1, s. 232-245
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. Objective: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs. Methods: Patients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping. Results: A likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/ 110) and management was directly altered in nearly a quarter (26/ 110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays. Conclusion: This high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.
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  • Hedegaard, Jakob, et al. (författare)
  • Comprehensive Transcriptional Analysis of Early-Stage Urothelial Carcinoma
  • Ingår i: Cancer Cell. - : Cell Press. - 1535-6108 .- 1878-3686. ; 30:1, s. 27-42
  • Tidskriftsartikel (refereegranskat)abstract
    • Non-muscle-invasive bladder cancer (NMIBC) is a heterogeneous disease with widely different outcomes. We performed a comprehensive transcriptional analysis of 460 early-stage urothelial carcinomas and showed that NMIBC can be subgrouped into three major classes with basal- and luminal-like characteristics and different clinical outcomes. Large differences in biological processes such as the cell cycle, epithelial-mesenchymal transition, and differentiation were observed. Analysis of transcript variants revealed frequent mutations in genes encoding proteins involved in chromatin organization and cytoskeletal functions. Furthermore, mutations in well-known cancer driver genes (e.g., TP53 and ERBB2) were primarily found in high-risk tumors, together with APOBEC-related mutational signatures. The identification of subclasses in NMIBC may offer better prognostication and treatment selection based on subclass assignment.
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  • Nissen, Eva Rames, et al. (författare)
  • Internet-delivered mindfulness-based cognitive therapy for anxiety and depression in cancer survivors : A randomized controlled trial
  • 2020
  • Ingår i: Psycho-Oncology. - : John Wiley & Sons. - 1057-9249 .- 1099-1611. ; 29:1, s. 68-75
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective Internet-delivered interventions may alleviate distress in cancer survivors with limited access to psychological face-to-face treatment. In collaboration with a group of cancer survivors, we developed and tested the efficacy of a therapist-assisted internet-delivered mindfulness-based cognitive therapy (iMBCT) program for anxiety and depression in cancer survivors. Methods A total of 1282 cancer survivors were screened for anxiety and depression during their routine oncology follow-up; eligible breast (n = 137) and prostate cancer (n = 13) survivors were randomized to iMBCT or care-as-usual (CAU) wait-list. Primary outcomes of anxiety and depression were assessed at baseline, 5 weeks, 10 weeks (post intervention), and 6 months. Results Significant effects were found for both anxiety (Cohen's d = 0.45; P = .017) and depressive symptoms (d = 0.42; P = .024) post intervention. The effects were maintained at follow-up for anxiety (d = 0.40; P = .029), but not for depressive symptoms (d = 0.28; P = .131). Conclusions Our preliminary findings suggest iMBCT to be a helpful intervention for cancer survivors suffering from symptoms of anxiety. Further studies on the efficacy for symptoms of depression are needed.
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