Browsing NTNU Open by Author "Olsen, Maren Fridtjofsen"

Now showing items 1-5 of 5

    • 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. ...

    • 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 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 ...