• Predictive and Prognostic Impact of TP53 Mutations and MDM2 Promoter Genotype in Primary Breast Cancer Patients Treated with Epirubicin or Paclitaxel 

      Chrisanthar, Ranjan; Knappskog, Stian; Løkkevik, Erik; Anker, Gun Birgitta; Østenstad, Bjørn; Lundgren, Steinar; Risberg, Terje; Mjaaland, Ingvil; Skjønsberg, Gudbrand; Aas, Turid; Schlichting, Ellen; Fjøsne, Hans Erikssønn; Nysted, Arne; Lillehaug, Johan R.; Lønning, Per Eystein (Journal article; Peer reviewed, 2011)
    • 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 (Peer reviewed; Journal article, 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 ...
    • Prevalence of the CHEK2 R95* germline mutation 

      Knappskog, Stian; Leirvaag, Beryl; Gansmo, Liv Beathe; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Lønning, Per Eystein (Peer reviewed; Journal article, 2016)
      Background While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; ...
    • Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples 

      Bailey, Matthew H.; Meyerson, William U.; Dursi, L. Jonathan; Wang, Liang-Bo; Dong, Guanlan; Liang, Wen-Wei; Weerasinghe, Amila; Li, Shantao; Li, Yize; Kelso, Sean; Aure, Miriam Ragle; Børresen-Dale, Anne-Lise; Langerød, Anita; Baumhoer, Daniel; Bjerkehagen, Bodil; Garred, Øystein; Lingjærde, Ole Christian; Sauer, Torill; Zaikova, Olga; Myklebost, Ola; Knappskog, Stian; Vazquez, Miguel; Akbani, Rehan; Anur, Pavana; Buchanan, Alex; Chiotti, Kami; Covington, Kyle; Creason, Allison; Niu, Beifang; Bieg, Matthias; Boutros, Paul C.; Buchhalter, Ivo; Butler, Adam P.; Chen, Ken; Chong, Zechen; Drechsel, Oliver; Aaltonen, Lauri; Abascal, Federico; Abeshouse, Adam; Aburatani, H; Adams, David J.; Van Loo, Peter; Saksena, Gordon; Ellrott, Kyle; Wendl, Michael C.; Wheeler, David A.; Getz, Gad; Simpson, Jared T.; Gerstein, Mark B.; Ding, Li (Peer reviewed; Journal article, 2020)
      The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part ...
    • Sex differences in oncogenic mutational processes 

      Li, Constance H.; Prokopec, Stephenie D.; Sun, Ren X.; Yousif, Fouad; Schmitz, Nathaniel; Boutros, Paul C.; Aure, Miriam Ragle; Børresen-Dale, Anne-Lise; Langerød, Anita; Wright, Derek W.; Baumhoer, Daniel; Bjerkehagen, Bodil; Garred, Øystein; Lingjærde, Ole Christian; Sauer, Torill; Zaikova, Olga; Myklebost, Ola; Knappskog, Stian; Vazquez, Miguel; Van Loo, Peter (Peer reviewed; Journal article, 2020)
      Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features ...
    • The MDM4 SNP34091 (rs4245739) C-allele is associated with increased risk of ovarian—but not endometrial cancer 

      Lønning, Per Eystein; Gansmo, Liv Beathe; Salvesen, Helga; Romundstad, Pål Richard; Birkeland, Einar Elvbakken; Bjørnslett, Merete Pauline; Halle, Mari Kyllesø; Dørum, Anne; Hveem, Kristian; Knappskog, Stian; Vatten, Lars Johan (Journal article; Peer reviewed, 2016)
      The MDM4 protein (also known as MDMX or HDMX) is a negative regulator of p53, not only by direct interaction but also through its interaction with MDM2. Further, MDM4 overexpression and amplification have been observed in ...
    • White blood cell BRCA1 promoter methylation status and ovarian cancer risk 

      Lønning, Per Eystein; Berge, Elisabet Ognedal; Bjørnslett, Merete Pauline; Minsaas, Laura; Chrisanthar, Ranjan; Vetti, Hildegunn Høberg; Dulary, Cécile; Busato, Florence; Bjørneklett, Silje; Eriksen, Christine; Kopperud, Reidun Kristin; Axcrona, Ulrika; Davidson, Ben; Bjørge, Line; Evans, D. Gareth; Howell, Anthony; Salvesen, Helga; Janszky, Imre; Hveem, Kristian; Romundstad, Pål Richard; Vatten, Lars Johan; Tost, Jörg; Dørum, Anne; Knappskog, Stian (Journal article; Peer reviewed, 2018)
      Background: The role of normal tissue gene promoter methylation in cancer risk is poorly understood. Objective: To assess associations between normal tissue BRCA1 methylation and ovarian cancer risk. Design: 2 ...