• A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes 

      Hansen, Maren Fridtjofsen; Neckmann, Ulrike; Lavik, Liss Anne; Vold, Trine; Gilde, Bodil; Toft, Ragnhild Karlgård; Sjursen, Wenche (Journal article; Peer reviewed, 2014)
      The purpose of this study was to develop a massive parallel sequencing (MPS) workflow for diagnostic analysis of mismatch repair (MMR) genes using the GS Junior system (Roche). A pathogenic variant in one of four MMR genes, ...
    • An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome 

      Suerink, Manon; Rodriguez-Girondo, Mar; van der Klift, Heleen M.; Colas, Chrystelle; Brugieres, Laurence; Lavoine, Noémie; Jongmans, Marjolijn; Munar, Gabriel Capellá; Evans, D. Gareth; Farrell, Michael P.; Genuardi, Maurizio; Goldberg, Yael; Gomez-Garcia, Encarna; Heinimann, Karl; Hoell, Jessica I.; Aretz, Stefan; Jasperson, Kory W.; Kedar, Inbal; Modi, Mitul B.; Nikolaev, Sergey; van Os, Theo A.M.; Ripperger, Tim; Rueda, Daniel; Senter, Leigha; Sjursen, Wenche; Sunde, Lone; Therkildsen, Christina; Tibiletti, Maria G.; Trainer, Alison H.; Vos, Yvonne J.; Wagner, Anja; Winship, Ingrid; Wimmer, Katharina; Zimmermann, Stefanie Y.; Vasen, Hans F.; van Asperen, Christi J.; Houwing-Duistermaat, Jeanine J.; ten Broeke, Sanne W.; Nielsen, Maartje (Peer reviewed; Journal article, 2019)
      Purpose Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndrome known as constitutional mismatch repair deficiency (CMMRD). Family members with a ...
    • Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome 

      Xavier, Alexandre; Olsen, Maren Fridtjofsen; Lavik, Liss Ane; Johansen, Jostein; Singh, Ashish Kumar; Sjursen, Wenche; Scott, Rodney J.; Talseth-Palmer, Bente Anita (Journal article; Peer reviewed, 2019)
      AbstractBackground: Lynch‐like syndrome (LLS) represents around 50% of the patients fulfilling the Amsterdam Criteria II/revised Bethesda Guidelines, characterized by a strong family history of Lynch Syndrome (LS) ...
    • Establishment of Tissue Microarray for Molecular – Genetic Subclassification of Colorectal Cancer 

      Juhlen, Ramona (Master thesis, 2011)
      In 30-70% of colorectal cancers colonization of the liver leads to high mortality. Most liver metastases are unresectable and recurrence level after surgery is high (50%). Identification of patients at high risk to develop ...
    • Evaluation of a targeted next generation sequencing workflow as a diagnostic tool for hereditary cancer 

      Riis, Rasmus Kopperud (Master thesis, 2016)
      Cancer is one of the most common causes of human mortality worldwide and can be divided into three main classes; sporadic, familial and hereditary. Familial and hereditary cancers are believed to be initiated by germline ...
    • Haplotype Analysis of Suspected Lynch Syndrome Families 

      Sevatdal, Sofie Geck (Master thesis, 2019)
      Lynch syndrome is the most common type of hereditary colorectal cancer and is characterized by a germline mutation in one of the DNA mismatch repair (MMR) genes (PMS2, MSH2, MSH6 or MLH1). Identification of Lynch syndrome ...
    • Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations 

      Sjursen, Wenche; McPhillips, Mary; Scott, Rodney J.; Talseth-Palmer, Bente (Peer reviewed; Journal article, 2016)
      Background Lynch syndrome, the most frequent hereditary colorectal cancer syndrome, is caused by defects in mismatch repair genes. Genetic testing is important in order to identify mutation carriers who can benefit from ...
    • Massive parallel amplicon sequencing of the mismatch repair genes MSH2, MSH6, MLH1 and PMS2. Implementation of hereditary and non-hereditary subtypes of colorectal cancer 

      Neckmann, Ulrike (Master thesis, 2013)
       Colorectal cancer is the one of the most frequent malignancies and accounts for approximately 3500 new cases each year in Norway. Colorectal cancer is a heterogeneous disorder and can be divided into three main groups: ...
    • Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype 

      Grolleman, Judith E.; de Voer, Richarda M.; Elsayed, Fadwa A.; Nielsen, Maartje; Weren, Robbert D.A.; Palles, Claire; Ligtenberg, Marjolijn J.L.; Vos, Janet R.; ten Broeke, Sanne W.; de Miranda, Noel F.C.C.; Kuiper, Renske A.; Kamping, Eveline J.; Jansen, Erik A.M.; Vink-Börger, M. Elisa; Popp, Isabell; Lang, Alois; Spier, Isabel; Hüneburg, Robert; James, Paul A.; Li, Na; Staninova, Marija; Lindsay, Helen; Cockburn, David; Spasic-Boskovic, Olivera; Clendenning, Mark; Sweet, Kevin; Capellá, Gabriel; Sjursen, Wenche; Vetti, Hildegunn Høberg; Jongmans, Marjolijn C.; Neveling, Kornelia; van Kessel, Ad Geurts; Morreau, Hans; Hes, Frederik J.; Sijmons, Rolf H.; Schackert, Hans K.; Ruiz-Ponte, Clara; Dymerska, Dagmara; Lubiñski, Jan; Rivera, Barbara; Foulkes, William D.; Tomlinson, Ian P.; Valle, Laura; Buchanan, Daniel D.; Kenwrick, Sue; Adlard, Julian; Dimovski, Aleksandar J.; Campbell, Ian G.; Aretz, Stefan; Schindler, Detlev; van Wezel, Tom; Hoogerbrugge, Nicoline; Kuiper, Roland P. (Peer reviewed; Journal article, 2019)
      Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals carrying biallelic germline NTHL1 mutations ...
    • The prognostic value of methylation signatures and NF2 mutations in atypical meningiomas 

      Meta, Rahmina; Boldt, Henning B.; Kristensen, Bjarne W.; Sahm, Felix; Sjursen, Wenche; Torp, Sverre Helge (Peer reviewed; Journal article, 2021)
      Background: Due to the solely subjective histopathological assessment, the WHO 2016 classification of human meningiomas is subject to interobserver variation. Consequently, the need for more reliable and objective markers ...
    • Small RNA expression from viruses, bacteria and human miRNAs in colon cancer tissue and its association with microsatellite instability and tumor location 

      Mjelle, Robin; Sjursen, Wenche; Thommesen, Liv; Sætrom, Pål; Hofsli, Eva (Journal article; Peer reviewed, 2019)
      Background MicroRNAs (miRNA) and other small RNAs are frequently dysregulated in cancer and are promising biomarkers for colon cancer. Here we profile human, virus and bacteria small RNAs in normal and tumor tissue from ...
    • sMETASeq: combined profiling of microbiota and host small RNAs 

      Mjelle, Robin; Aass, Kristin Roseth; Sjursen, Wenche; Hofsli, Eva; Sætrom, Pål (Peer reviewed; Journal article, 2020)
      Understanding microbial communities' roles in human health and disease requires methods that accurately characterize the microbial composition and their activity and effects within human biological samples. We present ...
    • Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families 

      Talseth-Palmer, Bente; Bauer, Denis; Sjursen, Wenche; Evans, Tiffany-Jane; McPhillips, Mary; Proietto, Anthony; Otten, Geoffrey; Spigelman, Allan D.; Scott, Rodney J. (Peer reviewed; Journal article, 2016)
      Causative germline mutations in mismatch repair (MMR ) genes can only be identified in ~50% of families with a clinical diagnosis of the inherited colorectal cancer (CRC ) syndrome hereditary nonpolyposis colorectal cancer ...
    • Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer 

      Singh, Ashish Kumar; McPhillips, Mary; Talseth-Palmer, Bente; Lavik, Liss Ane; Xavier, Alexandre; Drabløs, Finn; Sjursen, Wenche (Peer reviewed; Journal article, 2020)
      Germline variants inactivating the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause Lynch syndrome that implies an increased cancer risk, where colon and endometrial cancer are the most frequent. Identification ...
    • The Norwegian PMS2 founder mutation c.989-1G>T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry 

      Grindedal, Eli Marie; Aarset, Harald; Bjørnevoll, Inga; Røyset, Elin Synnøve; Mæhle, Lovise Olaug; Stormorken, Astrid T.; Heramb, Cecilie; Medvik, Heidi; Møller, Pål; Sjursen, Wenche (Journal article; Peer reviewed, 2014)
      Background Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR) genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c.989-1G > T. The purpose of the study was ...
    • Update on genetic predisposition to colorectal cancer and polyposis 

      Valle, Laura; de Voer, Richarda M.; Goldberg, Yael; Sjursen, Wenche; Försti, Asta; Ruiz-Ponte, Clara; Caldés, Trinidad; Garré, Pilar; Olsen, Maren Fridtjofsen; Nordling, Margareta; Castellví-Bel, Sergi; Hemminki, Kari (Journal article; Peer reviewed, 2019)
      The present article summarizes recent developments in the characterization of genetic predisposition to colorectal cancer (CRC). The main themes covered include new hereditary CRC and polyposis syndromes, non-CRC hereditary ...
    • Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome 

      Hansen, Maren; Johansen, Jostein; Sylvander, Anna Elisabeth; Bjørnevoll, Inga; Talseth-Palmer, Bente Anita; Lavik, Liss Ane; Xavier, Alexandre; Engebretsen, Lars Fredri; Scott, Rodney; Drabløs, Finn Sverre; Sjursen, Wenche (Journal article; Peer reviewed, 2017)
      Background Many families with a high burden of colorectal cancer fulfil the clinical criteria for Lynch Syndrome. However, in about half of these families, no germline mutation in the mismatch repair genes known to be ...
    • Use of new sequencing technology to improve clinical diagnostics of hereditary colorectal cancer 

      Olsen, Maren Fridtjofsen (Doctoral theses at NTNU;2018:94, Doctoral thesis, 2018)
      Backgroud: Identification of a germline pathogenic variant that causes increased risk and aggregation of CRC in a family is important for the clinical management of the family members. Next generation sequencing technology ...
    • Whole exome sequencing analysis of novel rare variants in susceptibility and unprecedented genes of hereditary colorectal cancer 

      Jang, Kijin (Master thesis, 2020)
      High-penetrance mutations lead to predisposition to colorectal cancer (CRC), comprising up to 5% of all colorectal cancer cases, e.g., defects in the DNA mismatch (MMR) genes causing Lynch syndrome. With the advent of ...