• 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 ...
    • BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories 

      Hovland, Henrikke Nilsen; Al-Adhami, Rafal; Ariansen, Sarah Louise; Van Ghelue, Marijke; Sjursen, Wenche; Anfinsen, Sigrid Lima; Bolstad, Marte; Berger, Amund Holte; Vetti, Hildegunn Høberg; Knappskog, Per Morten; Haukanes, Bjørn Ivar; Aukrust, Ingvild; Ognedal, Elisabet (Peer reviewed; Journal article, 2022)
      Pathogenic germline variants in Breast cancer susceptibility gene 1 (BRCA1) predispose carriers to hereditary breast and ovarian cancer (HBOC). Through genetic testing of patients with suspected HBOC an increasing number ...
    • 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) ...
    • Detecting copy number variation in next generation sequencing data from diagnostic gene panels 

      Singh, Ashish Kumar; Olsen, Maren Fridtjofsen; Lavik, Liss Ane; Vold, Trine; Drabløs, Finn; Sjursen, Wenche (Journal article; Peer reviewed, 2021)
      Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. ...
    • Detecting copy number variation in next generation sequencing data from diagnostic gene panels 

      Singh, Ashish Kumar; Olsen, Maren Fridtjofsen; Lavik, Liss Ane; Vold, Trine; Drabløs, Finn; Sjursen, Wenche (Peer reviewed; Journal article, 2021)
      Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. ...
    • Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing 

      Singh, Ashish Kumar; Talseth-Palmer, Bente Anita; Xavier, Alexandre; Scott, Rodney J.; Drabløs, Finn Sverre; Sjursen, Wenche (Peer reviewed; Journal article, 2023)
      Background Hereditary genetic mutations causing predisposition to colorectal cancer are accountable for approximately 30% of all colorectal cancer cases. However, only a small fraction of these are high penetrant mutations ...
    • 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 ...
    • Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions 

      Hovland, Henrikke Nilsen; Mchaina, Eunice Kabanyana; Vetti, Hildegunn Høberg; Ariansen, Sarah Louise; Sjursen, Wenche; Van Ghelue, Marijke; Haukanes, Bjørn Ivar; Knappskog, Per Morten; Aukrust, Ingvild; Berge, Elisabet Ognedal (Peer reviewed; Journal article, 2023)
      The BRCA1 protein is implicated in numerous important cellular processes to prevent genomic instability and tumorigenesis, and pathogenic germline variants predispose carriers to hereditary breast and ovarian cancer (HBOC). ...
    • 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 ...
    • Identification of metastasis-associated microRNAs in serum from rectal cancer patients 

      Mjelle, Robin; Sellæg, Kjersti; Sætrom, Pål; Thommesen, Liv; Sjursen, Wenche; Hofsli, Eva (Peer reviewed; Journal article, 2017)
      MicroRNAs (miRNAs) are promising prognostic and diagnostic biomarkers due to their high stability in blood. Here we investigate the expression of miRNAs and other noncoding (nc) RNAs in serum of rectal cancer patients. ...
    • 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: ...
    • MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome 

      Wiik, Mariann Unhjem; Negline, Mia; Beisvag, Vidar; Clapham, Matthew; Holliday, Elizabeth; Dueñas, Nuria; Brunet, Joan; Pineda, Marta; Bonifaci, Nuria; Aretz, Stefan; Klinkhammer, Hannah; Spier, Isabel; Perne, Claudia; Mayr, Andreas; Valle, Laura; Lubinski, Jan; Sjursen, Wenche; Scott, Rodney J.; Talseth-Palmer, Bente Anita (Peer reviewed; Journal article, 2023)
      Lynch syndrome (LS) is characterised by an increased risk of developing colorectal cancer (CRC) and other extracolonic epithelial cancers. It is caused by pathogenic germline variants in DNA mismatch repair (MMR) genes or ...
    • 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 ...
    • Next Generation Sequencing based methods in genetic disease diagnostics 

      Singh, Ashish Kumar (Doctoral theses at NTNU 2023:222, Doctoral thesis, 2023)
      Background: Identification of a germline pathogenic variant that increases risk of getting diseases in a family is important for the clinical management of the family members. DNA sequencing is an important molecular ...
    • Optimalisering av RNA-analyser; utprøving av Epstein-Barr virus-transformerte lymfoblastoide cellelinjer som kontrollmateriale 

      Brændvik, Sofie Emilie; Grønli, Elisabeth (Bachelor thesis, 2022)
      Avdeling for medisinsk genetikk (AMG) på St. Olavs Hospital har behov for nytt kontrollmateriale til analyser av RNA. Gentesting kan utføres på RNA-nivå som et supplement til gentesting på DNA-nivå. Dette utføres som regel ...
    • Optimalisering av sangersekvensering av BRCA1- og BRCA2-genene 

      Johnsen, Torill; Haugen, Larina (Bachelor thesis, 2023)
      I denne bacheloroppgaven er hensikten å optimalisere primere for sangersekvensering av BRCA1 og BRCA2. Dette gjelder for de primerne som ikke følger standard betingelser for rutinen ved Avdeling for medisinsk genetikk ...