Browsing NTNU Open by Author "Ariansen, Sarah Louise"

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    • A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing 

      Bjørnstad, Pål Marius; Aaløkken, Ragnhild Margrethe; Åsheim, June; Sundaram, Arvind; Nangota Felde, Caroline; Østby, Gina Henriette; Dalland, Marianne; Sjursen, Wenche; Carrizosa, Christian; Vigeland, Magnus Dehli; Sorte, Hanne Sørmo; Sheng, Ying; Ariansen, Sarah Louise; Grindedal, Eli Marie; Gilfillan, Gregor (Peer reviewed; Journal article, 2023)
      Lynch Syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in one of the four mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. It is characterized by a significantly increased risk of ...

    • 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 ...

    • Clinician Requirements for Genetic Information in the Electronic Health Record 

      Ariansen, Sarah Louise (Master thesis, 2022)
      Introduksjon Genetikk er i dag ett av de raskest voksende feltene innenfor helsevesenet, og bruken av genetisk informasjon øker spesielt innenfor presisjonsmedisin. For å utnytte genetisk informasjon i klinisk sammenheng, ...

    • 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). ...

    • Mutasjonstesting ved ikke-småcellet lungekreft 

      Brustugun, Odd Terje; Helland, Åslaug; Fjellbirkeland, Lars; Kleinberg, Lilach; Ariansen, Sarah Louise; Jebsen, Peter Wilhelm; Scott, Helge; Dønnem, Tom; Bremnes, Roy M.; Berg, Thomas; Grønberg, Bjørn Henning; Dai, Hong Yan; Wahl, Sissel Gyrid Freim; Mangseth, Kjersti; Helgeland, Lars (Peer reviewed; Journal article, 2012)
      BAKGRUNN. Epidermal vekstfaktor-reseptor (EGFR) tyrosinkinasehemmere (EGFR-TKI) er en relativt ny klasse legemidler til behandling av ikke-småcellet lungekreft. Den nasjonale faggruppen for lungekreft, Norsk Lunge Cancer ...