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Now showing items 1-35 of 35
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
Background: In precision cancer medicine, the challenge is to prioritize DNA driver events, account for resistance markers, and procure sufficient information for treatment that maintains patient safety. The MetAction ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
Background
We previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
We have surveyed 191 prospectively sampled familial cancer patients with no previously detected pathogenic variant in the BRCA1/2, PTEN, TP53 or DNA mismatch repair genes. In all, 138 breast cancer (BC) cases, 34 colorectal ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
Peritoneal malignant mesothelioma is a rare disease with a generally poor prognosis and poor response to chemotherapy. To improve survival there is a need for increased molecular understanding of the disease, including ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
Background
Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in ...
(Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 2019)
Most patients whose large bowel cancer has spread to other organs do not respond to immune therapy. We detected a rare gene mutation, termed 9p24.1 copy-number gain (CNG), in an otherwise incurable colorectal cancer that ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Background
The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Background
In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Summary
Individual tumor genomes pose a major challenge for clinical interpretation due to their unique sets of acquired mutations. There is a general scarcity of tools that can (i) systematically interrogate cancer ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Sample pooling enabled by dedicated indexes is a common strategy for cost-effective and robust high-throughput sequencing. Index misassignment leading to mutual contamination between pooled samples has however been described ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Background Most patients with path_MMR gene variants (Lynch syndrome (LS)) now survive both their first and subsequent cancers, resulting in a growing number of older patients with LS for whom limited information exists ...
(Journal article / Tidsskriftartikkel / SubmittedVersion, 2018)
The genomes of ancient humans can reveal patterns of early human migration (see the Perspective by Achilli et al.). Iceland has a genetically distinct population, despite relatively recent settlement (∼1100 years ago). ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Genomic alterations occurring during melanoma progression and the resulting genomic heterogeneity between metastatic deposits remain incompletely understood. Analyzing 86 metastatic melanoma deposits from 53 patients with ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
Motivation: Many high-throughput methods produce sets of genomic regions as one of their main outputs. Scientists often use genomic colocalization analysis to interpret such region sets, for example to identify interesting ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
The Norwegian e-Infrastructure for Life Sciences (NeLS) has been developed by ELIXIR Norway to provide its users with a system enabling data storage, sharing, and analysis in a project-oriented fashion. The system is ...
(Journal article / Tidsskriftartikkel / PublishedVersion, 2017)
Genomic locations are represented as coordinates on a specific genome build version, but the build information is frequently missing when coordinates are provided. We show that this information is essential to correctly ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
Background
A visualization referred to as rainfall plot has recently gained popularity in genome data analysis. The plot is mostly used for illustrating the distribution of somatic cancer mutations along a ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
Objective: Today most patients with Lynch syndrome (LS) survive their first cancer. There is limited information on the incidences and outcome of subsequent cancers. The present study addresses three questions: (i) what ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
Background
We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy.
...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
Objective Through the conduct of an individual-based intervention study, the main purpose of this project was to build and evaluate the required infrastructure that may enable routine practice of precision cancer medicine ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
Lung cancer is the leading cause of cancer related death, and the past years’ improved insight into underlying molecular events has significantly improved outcome for specific subsets of patients. In particular, several ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
Sensitive and specific genotyping of human papillomaviruses (HPVs) is important for population-based surveillance of carcinogenic HPV types and for monitoring vaccine effectiveness. Here we compare HPV genotyping by Next ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2016)
Background
It is now clearly evident that cancer outcome and response to therapy is guided by diverse immune-cell activity in tumors. Presently, a key challenge is to comprehensively identify networks of ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2015)
In this study, we analyzed the prevalence and clone size of BRAF V600E mutation in 209 patients with multiple myeloma and related the results to clinical phenotype, response and survival. Biopsies were screened for BRAF ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2015)
Introduction
Renal cell carcinoma with the distinct type of t(6;11)(p21;q12) translocation (transcription factor EB) is a rare neoplasm. In the present case study, we show for the first time an autophagy ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2015)
Background
The technological development of DNA analysis has had tremendous development in recent years, and the present deep sequencing techniques present unprecedented opportunities for detailed and ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2014)
Background
Recent developments in deep (next-generation) sequencing technologies are significantly impacting medical research. The global analysis of protein coding regions in genomes of interest by whole ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2014)
Background
It is of great importance to identify molecular processes and pathways that are involved in disease etiology. Although there has been an extensive use of various high-throughput methods for this ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2012)
Background
Expression of the two transcription factors microphthalmia-associated transcription factor (MITF) and signal transducer and activator of transcription 3 (STAT3) are tightly connected to cell ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2011)
Background
Metastatic progression due to development or enrichment of therapy-resistant tumor cells is eventually lethal. Molecular characterization of such chemotherapy resistant tumor cell clones may ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2011)
Background
The immune contribution to cancer progression is complex and difficult to characterize. For example in tumors, immune gene expression is detected from the combination of normal, tumor and immune ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2011)
Background
With the recent advances and availability of various high-throughput sequencing technologies, data on many molecular aspects, such as gene regulation, chromatin dynamics, and the three-dimensional ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2011)
Background
Transcription factors in disease-relevant pathways represent potential drug targets, by impacting a distinct set of pathways that may be modulated through gene regulation. The influence of ...
(Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2010)
The immense increase in the generation of genomic scale data poses an unmet analytical challenge, due to a lack of established methodology with the required flexibility and power. We propose a first principled approach to ...