Blar i Bergen Open Research Archive på forfatter "Nakken, Sigve"
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Cancer Predisposition Sequencing Reporter (CPSR): A flexible variant report engine for high-throughput germline screening in cancer
Nakken, Sigve; Saveliev, Vladislav; Hofmann, Oliver; Møller, Pål; Myklebost, Ola; Hovig, Eivind (Journal article; Peer reviewed, 2021)The value of high-throughput germline genetic testing is increasingly recognized inclinical cancer care. Disease-associated germline variants in cancer patients areimportant for risk management and surveillance, surgical ... -
Chromosomal instability and a deregulated cell cycle are intrinsic features of high-risk gastrointestinal stromal tumours with a metastatic potential
Namløs, Heidi Maria; Khelik, Ksenia; Nakken, Sigve; Vodak, Daniel; Hovig, Eivind; Myklebost, Ola; Pedersen, Kjetil Boye; Meza, Leonardo Zepeda (Journal article; Peer reviewed, 2023)Patients with localised, high-risk gastrointestinal stromal tumours (GIST) benefit from adjuvant imatinib treatment. Still, approximately 40% of patients relapse within 3 years after adjuvant therapy and the clinical and ... -
Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy
Venizelos, Andreas; Engebrethsen, Christina; Deng, Wei; Geisler, Jürgen; Geisler, Stephanie; Iversen, Gjertrud Titlestad; Aas, Turid; Aase, Hildegunn Siv; Seyedzadeh, Manouchehr; Steinskog, Eli Sihn Samdal; Myklebost, Ola; Nakken, Sigve; Vodák, Daniel; Hovig, Eivind; Meza, Leonardo Zepeda; Lønning, Per Eystein; Knappskog, Stian; Eikesdal, Hans Petter (Journal article; Peer reviewed, 2022)Background Subclonal evolution during primary breast cancer treatment is largely unexplored. We aimed to assess the dynamic changes in subclonal composition of treatment-naïve breast cancers during neoadjuvant ... -
Patterns of genomic evolution in advanced melanoma
Birkeland, Einar Elvbakken; Zhang, Shan; Poduval, Deepak; Geisler, Jürgen; Nakken, Sigve; Vodak, Daniel; Meza, Leonardo Zepeda; Hovig, Eivind; Myklebost, Ola; Knappskog, Stian; Lønning, Per Eystein (Peer reviewed; Journal article, 2018-07-10)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 ... -
Personal Cancer Genome Reporter: Variant interpretation report for precision oncology
Nakken, Sigve; Fournous, Ghislain; Vodak, Daniel; Aasheim, Lars Birger; Myklebost, Ola; Hovig, Eivind (Peer reviewed; Journal article, 2018-05)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 genomes in the ... -
Sample-Index Misassignment Impacts Tumour Exome Sequencing
Vodak, Daniel; Lorenz, Susanne; Nakken, Sigve; Aasheim, Lars Birger; Holte, Harald; Bai, Baoyan; Myklebost, Ola; Meza, Leonardo Zepeda; Hovig, Eivind (Peer reviewed; Journal article, 2018-03-28)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 ...