• Accurate 3-gene-signature for early diagnosis of liposarcoma progression 

      Serguienko, Anastassia; Braadland, Peder Rustøen; Meza-Zepeda, Leonardo A.; Bjerkehagen, Bodil; Myklebost, Ola (Journal article; Peer reviewed, 2020)
      Background Well- and dedifferentiated liposarcoma (WD/DDLPS) are rare mesenchymal malignant tumors that account for 20% of all sarcomas in adults. The WD form is a low-grade malignancy with a favourable prognosis which ...
    • 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 ...
    • Clinical and molecular implications of NAB2-STAT6 fusion variants in solitary fibrous tumour 

      Georgiesh, Tatiana; Namløs, Heidi Maria; Sharma, Nitin; Lorenz, Susanne; Myklebost, Ola; Bjerkehagen, Bodil; Meza-Zepeda, Leonardo A.; Boye, Kjetil (Journal article; Peer reviewed, 2021)
      Solitary fibrous tumour (SFT) is a mesenchymal neoplasm characterised by pathognomonic NAB2-STAT6 gene fusions. The clinical implications and prognostic value of different fusion variants has not been clarified. In the ...
    • Clonal evolution after treatment pressure in multiple myeloma: heterogenous genomic aberrations and transcriptomic convergence 

      Misund, Kristine; Hofste op Bruinink, Davine; Coward, Eivind; Hoogenboezem, Remco M.; Rustad, Even Holth; Sanders, Mathijs A.; Rye, Morten Beck; Sponaas, Anne-Marit; van der Holt, Bronno; Zweegman, Sonja; Hovig, Eivind; Meza, Leonardo Zepeda; Sundan, Anders; Myklebost, Ola; Sonneveld, Pieter; Waage, Anders (Journal article; Peer reviewed, 2022)
      We investigated genomic and transcriptomic changes in paired tumor samples of 29 in-house multiple myeloma (MM) patients and 28 patients from the MMRF CoMMpass study before and after treatment. A change in clonal composition ...
    • 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 ...
    • Discovery of novel candidates for anti- liposarcoma therapies by medium-scale high-throughput drug screening 

      Grad, Iwona; Hanes, Robert; Ayuda-Durán, Pilar; Kuijjer, Marieke Lydia; Enserink, Jorrit; Meza-Zepeda, Leonardo A; Myklebost, Ola (Journal article; Peer reviewed, 2021)
      Sarcomas are a heterogeneous group of mesenchymal orphan cancers and new treatment alternatives beyond traditional chemotherapeutic regimes are much needed. So far, tumor mutation analysis has not led to significant treatment ...
    • The ENCCA-WP7/EuroSarc/EEC/PROVABES/EURAMOS 3rd European Bone Sarcoma Networking Meeting/Joint Workshop of EU Bone Sarcoma Translational Research Networks; Vienna, Austria, September 24–25, 2015. Workshop Report 

      Kager, Leo; Whelan, Jeremy; Dirksen, Uta; Hassan, Bass; Anninga, Jakob; Bennister, Lindsey; Bovée, Judith V M G; Brennan, Bernadette; Broto, Javier M; Brugières, Laurence; Cleton-Jansen, Anne-Marie; Copland, Christopher; Dutour, Aurélie; Fagioli, Franca; Ferrari, Stefano; Fiocco, Marta; Fleuren, Emmy; Gaspar, Nathalie; Gelderblom, Hans; Gerrand, Craig; Gerß, Joachim; Gonzato, Ornella; van der Graaf, Winette; Hecker-Nolting, Stefanie; Herrero-Martín, David; Klco-Brosius, Stephanie; Kovar, Heinrich; Ladenstein, Ruth; Lancia, Carlo; LeDeley, Marie-Cecile; McCabe, Martin G; Metzler, Markus; Myklebost, Ola; Nathrath, Michaela; Picci, Piero; Potratz, Jenny; Redini, Françoise; Richter, Günther H; Reinke, Denise; Rutkowski, Piotr; Scotlandi, Katia; Strauss, Sandra; Thomas, David; Tirado, Oscar M; Tirode, Franck; Vassal, Gilles; Bielack, Stefan S (Journal article, 2016-03-16)
      This report summarizes the results of the 3rd Joint ENCCA-WP7, EuroSarc, EEC, PROVABES, and EURAMOS European Bone Sarcoma Network Meeting, which was held at the Children’s Cancer Research Institute in Vienna, Austria on ...
    • The expressed mutational landscape of microsatellite stable colorectal cancers 

      Sveen, Anita; Johannessen, Bjarne; Eilertsen, Ina Andrassy; Røsok, Bård Ingvald; Gulla, Marie; Eide, Peter Andreas Wold; Bruun, Jarle; Kryeziu, Kushtrim; Meza, Leonardo Zepeda; Myklebost, Ola; Bjørnbeth, Bjørn Atle; Skotheim, Rolf I.; Nesbakken, Arild; Lothe, Ragnhild Adelheid (Journal article; Peer reviewed, 2021)
      Background Colorectal cancer is the 2nd leading cause of cancer-related deaths with few patients benefiting from biomarker-guided therapy. Mutation expression is essential for accurate interpretation of mutations as ...
    • miR-486-5p expression is regulated by DNA methylation in osteosarcoma 

      Namløs, Heidi Maria; Skårn, Magne Nordang; Ali, Deeqa Ahmed Mohamed; Grad, Iwona; Andresen, Kim; Kresse, Stine Henrichson; Munthe, Else; Serra, Massimo; Scotlandi, Katia; Llombart-Bosch, Antonio; Myklebost, Ola; Lind, Guro Elisabeth; Meza, Leonardo Zepeda (Journal article; Peer reviewed, 2022)
      Background Osteosarcoma is the most common primary malignant tumour of bone occurring in children and young adolescents and is characterised by complex genetic and epigenetic changes. The miRNA miR-486-5p has been shown ...
    • Monitoring multiple myeloma by quantification of recurrent mutations in serum 

      Rustad, Even Holth; Coward, Eivind; Skytøen, Emilie R; Misund, Kristine; Holien, Toril; Standal, Therese; Børset, Magne; Beisvag, Vidar; Myklebost, Ola; Meza, Leonardo Zepeda; Hong, Yan Dai; Sundan, Anders; Waage, Anders (Peer reviewed; Journal article, 2017)
      Circulating tumor DNA is a promising biomarker to monitor tumor load and genome alterations. We explored the presence of circulating tumor DNA in multiple myeloma patients and its relation to disease activity during long-term ...
    • Multimodal analysis of cell-free DNA whole-genome sequencing for pediatric cancers with low mutational burden 

      Peneder, Peter; Stütz, Adrian M.; Surdez, Didier; Krumbholz, Manuela; Semper, Sabine; Chicard, Mathieu; Sheffield, Nathan C.; Pierron, Gaelle; Lapouble, Eve; Tötzl, Marcus; Ergüner, Bekir; Barreca, Daniele; Rendeiro, André F.; Agaimy, Abbas; Boztug, Heidrun; Engstler, Gernot; Dworzak, Michael; Bernkopf, Marie; Taschner-Mandl, Sabine; Ambros, Inge M.; Myklebost, Ola; Marec-Bérard, Perrine; Burchill, Susan A.; Brennan, Bernadette; Strauss, Sandra; Whelan, Jeremy; Schleiermacher, Gudrun; Schaefer, Christiane; Dirksen, Uta; Hutter, Caroline; Pedersen, Kjetil Boye; Ambros, Peter F.; Delattre, Olivier; Metzler, Markus; Bock, Christoph; Tomazou, Eleni M. (Journal article; Peer reviewed, 2021)
      Sequencing of cell-free DNA in the blood of cancer patients (liquid biopsy) provides attractive opportunities for early diagnosis, assessment of treatment response, and minimally invasive disease monitoring. To unlock ...
    • 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 ...
    • Preclinical Evaluation of the Pan-FGFR Inhibitor LY2874455 in FRS2-Amplified Liposarcoma 

      Hanes, Robert; Munthe, Else; Grad, Iwona; Han, Jianhua; Karlsen, Ida Tveit; Mc Cormack, Emmet; Meza-Zepeda, Leonardo A.; Stratford, Eva Wessel; Myklebost, Ola (Peer reviewed; Journal article, 2019-02-21)
      Background: FGFR inhibition has been proposed as treatment for dedifferentiated liposarcoma (DDLPS) with amplified FRS2, but we previously only demonstrated transient cytostatic effects when treating FRS2-amplified DDLPS ...
    • Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples 

      Bailey, Matthew H.; Meyerson, William U.; Dursi, L. Jonathan; Wang, Liang-Bo; Dong, Guanlan; Liang, Wen-Wei; Weerasinghe, Amila; Li, Shantao; Li, Yize; Kelso, Sean; Aure, Miriam Ragle; Børresen-Dale, Anne-Lise; Langerød, Anita; Baumhoer, Daniel; Bjerkehagen, Bodil; Garred, Øystein; Lingjærde, Ole Christian; Sauer, Torill; Zaikova, Olga; Myklebost, Ola; Knappskog, Stian; Vazquez, Miguel; Akbani, Rehan; Anur, Pavana; Buchanan, Alex; Chiotti, Kami; Covington, Kyle; Creason, Allison; Niu, Beifang; Bieg, Matthias; Boutros, Paul C.; Buchhalter, Ivo; Butler, Adam P.; Chen, Ken; Chong, Zechen; Drechsel, Oliver; Aaltonen, Lauri; Abascal, Federico; Abeshouse, Adam; Aburatani, H; Adams, David J.; Van Loo, Peter; Saksena, Gordon; Ellrott, Kyle; Wendl, Michael C.; Wheeler, David A.; Getz, Gad; Simpson, Jared T.; Gerstein, Mark B.; Ding, Li (Journal article; Peer reviewed, 2020)
      The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part ...
    • 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 ...
    • Sex differences in oncogenic mutational processes 

      Li, Constance H.; Prokopec, Stephenie D.; Sun, Ren X.; Yousif, Fouad; Schmitz, Nathaniel; Boutros, Paul C.; Aure, Miriam Ragle; Børresen-Dale, Anne-Lise; Langerød, Anita; Wright, Derek W.; Baumhoer, Daniel; Bjerkehagen, Bodil; Garred, Øystein; Lingjærde, Ole Christian; Sauer, Torill; Zaikova, Olga; Myklebost, Ola; Knappskog, Stian; Vazquez, Miguel; Van Loo, Peter (Journal article; Peer reviewed, 2020)
      Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features ...