A5037453767- Immunotherapy and Immune Responses
- Cancer Genomics and Diagnostics
- Melanoma and MAPK Pathways
- DNA Repair Mechanisms
- Cell Adhesion Molecules Research
- Cancer Research and Treatments
- Histone Deacetylase Inhibitors Research
- CAR-T cell therapy research
- melanin and skin pigmentation
- Protein Degradation and Inhibitors
- Cancer Cells and Metastasis
- MicroRNA in disease regulation
- Epigenetics and DNA Methylation
- Ocular Oncology and Treatments
- Genetic Associations and Epidemiology
- Gene expression and cancer classification
- Extracellular vesicles in disease
- Immune Cell Function and Interaction
- Cellular Mechanics and Interactions
- CRISPR and Genetic Engineering
- Genetic Mapping and Diversity in Plants and Animals
- Ubiquitin and proteasome pathways
- Enzyme Structure and Function
- Biomedical and Engineering Education
- Cancer Mechanisms and Therapy
University of Iceland
2020-2024
Sahlgrenska University Hospital
2014-2020
University of Gothenburg
2014-2020
Icelandic Heart Association
2014
Reykjavík University
2013
National University Hospital of Iceland
2013
Abstract Metastatic uveal melanoma is less well understood than its primary counterpart, has a distinct biology compared to skin melanoma, and lacks effective treatments. Here we genomically profile metastatic tumors infiltrating lymphocytes. BAP1 alterations are overrepresented found in 29/32 of cases. Reintroducing functional allele into deficient patient-derived cell line, reveals broad shift towards transcriptomic subtype previously associated with better prognosis the disease. One...
The BRAF inhibitors vemurafenib and dabrafenib can be used to treat patients with metastatic melanomas harboring BRAFV600 mutations. Initial antitumoral responses are often seen, but drug-resistant clones reactivation of the MEK-ERK pathway soon appear. Recently, secretome tumor-derived extracellular vesicles (EVs) has been ascribed important functions in cancers. To elucidate possible EVs BRAF-mutant melanoma, we determined RNA content EVs, including apoptotic bodies, microvesicles,...
The microphthalmia-associated transcription factor (MITF) is a critical regulator of melanocyte development and differentiation. It also plays an important role in melanoma where it has been described as molecular rheostat that, depending on activity levels, allows reversible switching between different cellular states. Here, we show that MITF directly represses the expression genes associated with extracellular matrix (ECM) focal adhesion pathways human cells well regulators...
// Berglind O. Einarsdottir 1,4 , Roger Olofsson Bagge Joydeep Bhadury Henrik Jespersen 2,4 Jan Mattsson Lisa M. Nilsson Katarina Truvé 5 Marcela Dávila López 4,5 Peter Naredi Ola 3,4 Ulrika Stierner Lars Ny and Jonas A. 1 Department of Surgery, Institute Clinical Sciences, Sahlgrenska Academy at the University Gothenburg, Hospital, Sweden 2 Oncology, 3 Biomedicine, 4 Translational Melanoma Group Cancer Center, The Bioinformatics Core Facility Correspondence: Nilsson, email: Keywords :...
Abstract Karonudib (TH1579) is a novel compound that exerts anti-tumor activities and has recently entered phase I clinical testing. The aim of this study was to conduct pre-clinical trial in patient-derived xenografts identify the possible biomarkers response or resistance could guide inclusion patients suffering from metastatic melanoma II trials. Patient-derived 31 with disease were treated karonudib vehicle for 18 days. Treatment responses followed by measuring tumor sizes, models...
Abstract Amplification of 8p12‐p11 is relatively common in breast cancer and several genes within the region have been suggested to affect tumor progression. The aim study was map amplified a large set tumors an effort identify genetic driver explore its impact on progression prognosis. Copy number alterations ( CNA s) were mapped 359 tumors, gene expression data from 577 (359 included) correlated with , clinical–pathological factors, protein (39 tumors). 11.4% tumors. smallest amplification...
Background The significance of serum 25-hydroxyvitamin D [25(OH)D] concentrations for hip fracture risk the elderly is still uncertain. Difficulties reaching both frail and healthy people in randomized controlled trials or large cohort studies may part explain discordant findings. We determined hazard ratios fractures men women related to 25(OH)D, including segment population. Methods AGES-Reykjavik Study a prospective study 5764 women, age 66–96 years, based on representative sample...
Abstract Metastatic malignant melanoma continues to be a challenging disease despite clinical translation of the comprehensive understanding driver mutations and how cells evade immune attack. In Myc-driven lymphoma, efficacy epigenetic inhibitors bromodomain extra-terminal domain (BET) family proteins can enhanced by combination therapy with DNA damage response kinase ATR. Whether this is active in solid malignancies like melanoma, it relates therapy, has not previously investigated. To...
Melanoma cells frequently dedifferentiate in response to inflammation which can increase responses certain cytokines. Interferon-γ (IFNγ) is an integral part of the anti-tumor immune and directly induce both differentiational changes expression immunosuppressive proteins melanoma cells. How differentiation status affects IFNγ remains unclear.
Cancer of unknown primary is a group metastatic tumors in which the standard diagnostic workup fails to identify site origin tumor. The potential impact precision oncology on this patients large, because actionable driver mutations and correct diagnosis could provide treatment options otherwise not available for with these fatal cancers. This study investigated if comprehensive genomic analyses information tumor.Here we describe patient whose tumor was misdiagnosed at least three times....
Cell line-derived xenografts (CDXs) are an integral part of drug efficacy testing during development new pharmaceuticals against cancer but their accuracy in predicting clinical responses patients have been debated. Patient-derived (PDXs) thought to be more useful for predictive biomarker identification targeted therapies, including metastatic melanoma, due similarities human disease. Here, tumor biopsies from fifteen and ten widely-used melanoma cell lines were transplanted into...
Rituximab has been used to treat MS patients in Iceland for over a decade. However, long-term effect of rituximab on leukocyte populations not yet elucidated. By retrospective analysis flow cytometric data from 349 visiting the neurological ward at The National University Hospital 2012 2023 treatment, and whether was dose dependent (1000mg vs 500mg) evaluated. No difference detected efficacy B cell depletion treated with 500mg as an initial when compared 1000mg. Long-term use led increase T...
Abstract The microphthalmia associated transcription factor (MITF) is a critical regulator of melanocyte development and differentiation. It also plays an important role in melanoma where it has been described as molecular rheostat that, depending on activity levels, allows reversible switching between different cellular states. Here we show that MITF directly represses the expression genes with extracellular matrix (ECM) focal adhesion pathways human cells well regulators epithelial to...
Abstract Uveal melanoma (UM) is a rare form of with genetics and immunology that different from skin melanoma. Previous studies have identified genetic driver events early stage disease when the tumor confined to eye. However due lack clinical rationale biopsy metastatic disease, access material perform molecular profiling metastases has been limited. In this study, we characterized genomic in UM using whole-genome sequencing fresh frozen biopsies thirty-two patients profiled transcriptomes...
On Pubmed, the name of co-author Roger Olofsson Bagge appeared incorrectly as “Bagge RO” instead “Olofsson Bagge, Roger”. This has been corrected in PDF and HTML versions.
Abstract While expression quantitative trait loci (eQTL) have been powerful in identifying susceptibility genes from genome-wide association studies (GWAS) findings, most trait-associated are not explained by eQTL alone. Alternative QTLs including DNA methylation QTL (meQTL) emerging, but cell-type-specific meQTL using cells of disease origin has lacking. Here we established an dataset primary melanocytes 106 individuals and identified 1,497,502 significant cis -meQTLs. Multi-QTL...
Abstract The development of novel therapies against melanoma would benefit from individualized tumor models to ensure the rapid and accurate identification biomarkers therapy response. Previous studies have suggested that patient-derived xenografts (PDXes) could be used in biomarker response discovery. However, clinical utility PDXes guiding real-time treatment decisions only been reported anecdotal forms. In present study we aimed develop a platform (PDXes), assess whether responses mice...
Abstract Melanoma is considered to be one of the most aggressive form human tumors and current therapies are only partly effective. The mutation rate higher in melanoma compared other cancer types. frequent mutation, BRAFV600E found 50-70% melanomas promotes proliferation survival. BRAF inhibitors have shown a good clinical responds rate, however resistance eventually develops. Therefore research into pathways active remains important. Other oncoproteins with limited knowledge about Pim...
Abstract Cell line-derived xenografts (CDXs) are an integral part of drug efficacy testing during development new pharmaceuticals against cancer but their accuracy in predicting clinical responses patients have been debated. Patient-derived (PDXs) thought to be more useful for predictive biomarker identification targeted therapies, including metastatic melanoma, due similarities human disease. Here, tumor biopsies from and ten widely-used melanoma cell lines were transplanted into...
Abstract In melanoma, more than 50% of the patients harbor BRAF somatic missense mutations, most affecting V600 region. Vemurafenib, a potent inhibitor used for treatment late stage has shown promising results by causing programmed cell death in melanoma cells. Recently, extracellular vesicles including apoptotic bodies, microvesicles and exosomes been to contain genetic information especially RNA with distinct repertoire RNA, which could be transferred from one another. Here we investigate...