Now showing items 1-16 of 16

  • Ekstrøm, Per O; Nakken, Sigve; Johansen, Morten; Hovig, Eivind (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 ...
  • Rustad, Even Holth; Dai, Hong Yan; Hov, Håkon; Coward, Eivind; Beisvag, Vidar; Myklebost, Ola; Hovig, Eivind; Nakken, Sigve; Vodak, Daniel; Meza-Zepeda, Leonardo A.; Sandvik, Arne Kristian; Wader, Karin Fahl; Misund, Kristine; Sundan, Anders; Aarset, Harald; Waage, Anders (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 ...
  • Møller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paulo; Evans, D. Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf H.; Jeffries, Jacqueline; Vasen, Hans F.A.; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos tot Nederveen Cappel, Wouter H.; Hill, James; Wijnen, Juul T.; Jenkins, Mark A.; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Dominguez-Valentin, Mev; Frayling, Ian M.; Plazzer, John-Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Möslein, Gabriela; Sampson, Julian R.; Capella, Gabriel (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 ...
  • Seppälä, Toni; Pylvänäinen, Kirsi; Evans, Dafydd G; Järvinen, Heikki; Renkonen-Sinisalo, Laura; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar A; Tharmaratnam, Kukatharmini; de Vos tot Nederveen Cappel, Wouter H; Hill, James; Wijnen, Juul; Jenkins, Mark; Genuardi, Maurizio; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Frayling, Ian M; Plazzer, John-Paul; Sampson, Julian R; Capella, Gabriel; Möslein, Gabriela; Mecklin, Jukka-Pekka; Møller, Pål (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. ...
  • Nakken, Sigve; Rognes, Torbjørn; Hovig, Eivind (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2009)
    Specific guanine-rich sequence motifs in the human genome have considerable potential to form four-stranded structures known as G-quadruplexes or G4 DNA. The enrichment of these motifs in key chromosomal regions has suggested ...
  • Dominguez-Valentin, Mev; Evans, D. G R; Nakken, Sigve; Tubeuf, Hélène; Vodak, Daniel; Ekstrøm, Per O; Nissen, Anke M; Morak, Monika; Holinski-Feder, Elke; Martins, Alexandra; Møller, Pål; Hovig, Eivind (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 ...
  • Simovski, Boris; Vodak, Daniel; Gundersen, Sveinung; Domanska, Diana Ewa; Azab, Abdulrahman; Holden, Lars; Holden, Marit; Grytten, Ivar; Rand, Knut Dagestad; Drabløs, Finn Sverre; Johansen, Morten; Mora, Antonio M.; Lund-Andersen, Christin; Fromm, Bastian; Eskeland, Ragnhild; Gabrielsen, Odd Stokke; Ferkingstad, Egil; Nakken, Sigve; Bengtsen, Mads; Nederbragt, Alexander Johan; Thorarensen, Hildur Sif; Andreas Akse, Johannes; Glad, Ingrid Kristine; Hovig, Johannes Eivind; Sandve, Geir Kjetil (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
    Background: Recent large-scale undertakings such as ENCODE and Roadmap Epigenomics have generated experimental data mapped to the human reference genome (as genomic tracks) representing a variety of functional elements ...
  • Dominguez-Valentin, Mev; Nakken, Sigve; Tubeuf, Hélène; Vodak, Daniel; Ekstrøm, Per O; Nissen, Anke M; Morak, Monika; Holinski-Feder, Elke; Martins, Alexandra; Møller, Pål; Hovig, Eivind (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 ...
  • Ree, Anne Hansen; Russnes, Hege Elisabeth Giercksky; Heinrich, Daniel; Dueland, Svein; Pedersen, Kjetil Boye; Nygaard, Vigdis; Silwal-Pandit, Laxmi; Østrup, Olga; Hovig, Eivind; Nygaard, Vegard; Rødland, Einar Andreas; Nakken, Sigve; Øien, Janne T; Johansen, Christin; Bergheim, Inger; Skarpeteig, Veronica; Sathermugathevan, Menaka; Sauer, Torill; Lund-Iversen, Marius; Beiske, Klaus; Nasser, Salah; Julsrud, Lars; Reisse, Claudius; Ruud, Espen Asak; Flørenes, Vivi Ann; Hagene, Kirsten T; Aas, Eline; Lurås, Hilde; Soriano, Siv Johnsen; Geitvik, Gry Aarum; Lingjærde, Ole Christian; Børresen-Dale, Anne-Lise; Mælandsmo, Gunhild; Flatmark, Kjersti (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 ...
  • Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D. Gareth; Lindblom, Annika; MacRae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; De Vos Tot Nederveen Cappel, Wouter H.; Hill, James; Wijnen, Juul; Jenkins, Mark; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Frayling, Ian M.; Plazzer, John-Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Möslein, Gabriela; Sampson, Julian R.; Capella, Gabriel (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 ...
  • Seppälä, Toni T; Ahadova, Aysel; Dominguez-Valentin, Mev; Macrae, Finlay; Evans, D. G; Therkildsen, Christina; Sampson, Julian; Scott, Rodney; Burn, John; Möslein, Gabriela; Bernstein, Inge; Holinski-Feder, Elke; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Lautrup, Charlotte K; Lindblom, Annika; Plazzer, John-Paul; Winship, Ingrid; Tjandra, Douglas; Katz, Lior H; Aretz, Stefan; Hüneburg, Robert; Holzapfel, Stefanie; Heinimann, Karl; Valle, Adriana D; Neffa, Florencia; Gluck, Nathan; de Vos tot Nederveen Cappel, Wouter H; Vasen, Hans; Morak, Monika; Steinke-Lange, Verena; Engel, Christoph; Rahner, Nils; Schmiegel, Wolff; Vangala, Deepak; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J; Hill, James; Capella, Gabriel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; ten Broeke, Sanne; Nielsen, Maartje; Ljungmann, Ken; Nakken, Sigve; Lindor, Noralane; Frayling, Ian; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Mecklin, Jukka-Pekka; Kalager, Mette; Møller, Pål (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 ...
  • Nakken, Sigve; Rødland, Einar A; Rognes, Torbjørn; Hovig, Eivind (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2009)
    Background Recent segmental duplications are relatively large (≥ 1 kb) genomic regions of high sequence identity (≥ 90%). They cover approximately 4–5% of the human genome and play important roles in gene ...
  • 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 (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 ...
  • Nakken, Sigve; Fournous, Ghislain; Vodak, Daniel; Aasheim, Lars Birger; Myklebost, Ola; Hovig, Eivind (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 ...
  • Vodak, Daniel; Lorenz, Susanne; Nakken, Sigve; Aasheim, Lars Birger; Holte, Harald; Bai, Baoyan; Myklebost, Ola; Meza, Leonardo Zepeda; Hovig, Eivind (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 ...
  • Dominguez-Valentin, Mev; Seppälä, Toni T; Sampson, Julian R; Macrae, Finlay; Winship, Ingrid; Evans, D. G; Scott, Rodney J; Burn, John; Möslein, Gabriela; Bernstein, Inge; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Lindblom, Annika; Plazzer, John-Paul; Tjandra, Douglas; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J; Hill, James; Capella, Gabriel; Pineda, Marta; Navarro, Matilde; Vidal, Joan B; Rønlund, Karina; Nielsen, Randi T; Yilmaz, Mette; Elvang, Louise L; Katz, Lior; Nielsen, Maartje; ten Broeke, Sanne W; Nakken, Sigve; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Knebel Doeberitz, Magnus v; Ahadova, Aysel; Lindor, Noralane; Steinke-Lange, Verena; Holinski-Feder, Elke; Mecklin, Jukka-Pekka; Møller, Pål (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 ...