• Alterations of the retinoblastoma gene in metastatic breast cancer 

      Berge, Elisabet Ognedal; Knappskog, Stian; Lillehaug, Johan; Lønning, Per Eystein (Peer reviewed; Journal article, 2011-01-21)
      Germline mutations affecting the retinoblastoma gene (RB1) predispose to inherited retinoblastomas but also other malignancies, including breast cancer. While somatic RB1 mutations have been detected in different malignancies, ...
    • Assessment of tumor suppressor promoter methylation in healthy individuals 

      Poduval, Deepak; Berge, Elisabet Ognedal; Sichmanovà, Zuzana; Valen, Eivind; Iversen, Gjertrud Titlestad; Minsaas, Laura; Lønning, Per Eystein; Knappskog, Stian (Journal article; Peer reviewed, 2020-08)
      Background The number of tumor suppressor genes for which germline mutations have been linked to cancer risk is steadily increasing. However, while recent reports have linked constitutional normal tissue promoter methylation ...
    • CHEK2 Mutations Affecting Kinase Activity Together With Mutations in TP53 Indicate a Functional Pathway Associated with Resistance to Epirubicin in Primary Breast Cancer 

      Chrisanthar, Ranjan; Knappskog, Stian; Løkkevik, Erik; Anker, Gun Birgitta; Østenstad, Bjørn; Lundgren, Steinar; Berge, Elisabet Ognedal; Risberg, Terje; Mjaaland, Ingvil; Mæhle, Lovise; Engebretsen, Lars Fredrik; Lillehaug, Johan; Lønning, Per Eystein (Peer reviewed; Journal article, 2008-08-26)
      Background: Chemoresistance is the main obstacle to cure in most malignant diseases. Anthracyclines are among the main drugs used for breast cancer therapy and in many other malignant conditions. Single parameter analysis ...
    • Concomitant inactivation of the p53- and pRB- functional pathways predicts resistance to DNA damaging drugs in breast cancer in vivo 

      Knappskog, Stian; Berge, Elisabet Ognedal; Chrisanthar, Ranjan; Geisler, Stephanie; Staalesen, Vidar; Leirvaag, Beryl; Yndestad, Synnøve; de Faveri, Elise Norheim; Karlsen, Bård Ove; Wedge, David C.; Akslen, Lars A.; Lilleng, Peer Kåre; Løkkevik, Erik; Lundgren, Steinar; Østenstad, Bjørn; Risberg, Terje; Mjaaland, Ingvil; Aas, Turid; Lønning, Per Eystein (Peer reviewed; Journal article, 2015-10)
      Chemoresistance is the main obstacle to cancer cure. Contrasting studies focusing on single gene mutations, we hypothesize chemoresistance to be due to inactivation of key pathways affecting cellular mechanisms such as ...
    • 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 (Journal article; Peer reviewed, 2023-01-19)
      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). ...
    • Identification and characterization of retinoblastoma gene mutations disturbing apoptosis in human breast cancers 

      Berge, Elisabet Ognedal; Knappskog, Stian; Geisler, Stephanie; Staalesen, Vidar; Pacal, Marec; Børresen-Dale, Anne-Lise; Puntervoll, Pål; Lillehaug, Johan; Lønning, Per Eystein (Peer reviewed; Journal article, 2010-07-01)
      Background The tumor suppressor pRb plays a key role regulating cell cycle arrest, and disturbances in the RB1 gene have been reported in different cancer forms. However, the literature reports contradictory findings with ...
    • Prenatal BRCA1 epimutations contribute significantly to triple-negative breast cancer development 

      Nikolaienko, Oleksii; Eikesdal, Hans Petter; Berge, Elisabet Ognedal; Gilje, Bjørnar; Lundgren, Steinar; Blix, Egil Støre; Espelid, Helge; Geisler, Jürgen; Geisler, Stephanie; Janssen, Emiel; Yndestad, Synnøve; Minsaas, Laura; Leirvaag, Beryl; Lillestøl, Reidun Kristine; Knappskog, Stian; Lønning, Per Eystein (Journal article; Peer reviewed, 2023)
      Background Normal cell BRCA1 epimutations have been associated with increased risk of triple-negative breast cancer (TNBC). However, the fraction of TNBCs that may have BRCA1 epimutations as their underlying cause is ...