• APOBEC3A/B deletion polymorphism and endometrial cancer risk 

      Sofiyeva, Nigar; Krakstad, Camilla; Halle, Mari Kyllesø; O'Mara, Tracy A.; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Lønning, Per Eystein; Gansmo, Liv Beathe; Knappskog, Stian (Journal article; Peer reviewed, 2022)
    • Associations between the MDM2 promoter P1 polymorphism del1518 (rs3730485) and incidence of cancer of the breast, lung, colon and prostate 

      Lønning, Per Eystein; Gansmo, Liv Beathe; Romundstad, Pål Richard; Ryan, Bríd M.; Hveem, Kristian; Knappskog, Stian; Harris, Curtis C.; Vatten, Lars Johan (Journal article; Peer reviewed, 2016)
      The MDM2 promoter region contains several polymorphisms, some of which have been associated with MDM2 expression, cancer risk and age at cancer onset. del1518 (rs3730485) is an indel polymorphism residing in the MDM2 ...
    • 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 (Journal article; Peer reviewed, 2008)
      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)
      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 ...
    • DNA methylation changes in response to neoadjuvant chemotherapy are associated with breast cancer survival 

      Pedersen, Christine Aaserød; Cao, Maria Dung; Fleischer, Thomas; Rye, Morten Beck; Knappskog, Stian; Eikesdal, Hans Petter; Lønning, Per Eystein; Tost, Jörg; Kristensen, Vessela N.; Tessem, May-Britt; Giskeødegård, Guro F.; Bathen, Tone Frost (Peer reviewed; Journal article, 2022)
      Background Locally advanced breast cancer is a heterogeneous disease with respect to response to neoadjuvant chemotherapy (NACT) and survival. It is currently not possible to accurately predict who will benefit from the ...
    • Germline pathogenic variants in patients with high-grade gastroenteropancreatic neuroendocrine neoplasms 

      Venizelos, Andreas; Sorbye, Halfdan; Elvebakken, Hege; Perren, Aurel; Lothe, Inger Marie Bowitz; Couvelard, Anne; Hjortland, Geir Olav; Sundlöv, Anna; Svensson, Johanna; Garresori, Herish; Kersten, Christian; Hofsli, Eva; Detlefsen, Sönke; Vestermark, Lene W.; Ladekarl, Morten; Tabaksblat, Elizaveta Mitkina; Knappskog, Stian (Peer reviewed; Journal article, 2023)
      High-grade gastroenteropancreatic (HG-GEP) neuroendocrine neoplasms (NENs) are highly aggressive cancers. The molecular etiology of these tumors remains unclear, and the prevalence of pathogenic germline variants in patients ...
    • Homologous Recombination Deficiency Across Subtypes of Primary Breast Cancer 

      Yndestad, Synnøve; Engebrethsen, Christina; Herencia-Ropero, A.; Nikolaienko, Oleksii; Vintermyr, Olav Karsten; Lillestøl, Reidun Kristine; Minsaas, Laura; Leirvaag, Beryl; Iversen, Gjertrud Titlestad; Gilje, Bjørnar; Blix, Egil Støre; Espelid, Helge; Lundgren, Steinar; Geisler, Jürgen; Aase, Hildegunn Siv; Aas, Turid; Gudlaugsson, Einar; Llop-Guevara, Alba; Serra, Violeta; Janssen, Emiel; Lønning, Per Eystein; Knappskog, Stian; Eikesdal, Hans Petter (Peer reviewed; Journal article, 2023)
      Purpose Homologous recombination deficiency (HRD) is highly prevalent in triple-negative breast cancer (TNBC) and associated with response to PARP inhibition (PARPi). Here, we studied the prevalence of HRD in non-TNBC to ...
    • Impact of MDM2 promoter SNP55 (rs2870820) on risk of endometrial and ovarian cancer 

      Helwa, Reham; Gansmo, Liv Beathe; Bjørnslett, Merete Pauline; Halle, Mari Kyllesø; Werner, Henrica Maria Johanna; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Dørum, Anne; Lønning, Per Eystein; Knappskog, Stian (Journal article; Peer reviewed, 2021)
      Background While large GWAS analyses have not found convincing associations between MDM2 promoter SNP55 and gynaecological cancers, SNP55 is in linkage disequilibrium with two other functional SNPs in the same promoter, ...
    • Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer 

      Gansmo, Liv Beathe; Sofiyeva, Nigar; Bjørnslett, Merete Pauline; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Dørum, Anne; Lønning, Per Eystein; Knappskog, Stian (Journal article; Peer reviewed, 2021)
      A germline 29.5-kb deletion variant removes the 3’ end of the APOBEC3A gene and a large part of APOBEC3B, creating a hybrid gene that has been linked to increased APOBEC3 activity and DNA damage in human cancers. We genotyped ...
    • Influence of MDM2 SNP309 and SNP285 status on the risk of cancer in the breast, prostate, lung and colon 

      Gansmo, Liv Beathe; Knappskog, Stian; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Lønning, Per Eystein (Journal article; Peer reviewed, 2015)
      MDM2 is a key regulator of the p53 tumor suppressor protein and is overexpressed in many human cancers. Two single nucleotide polymorphisms (SNPs) located in the MDM2 intronic promoter (P2) have been found to exert biological ...
    • Low expression levels of ATM may substitute for CHEK2/TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer 

      Knappskog, Stian; Chrisanthar, Ranjan; Løkkevik, Erik; Anker, Gun Birgitta; Østenstad, Bjørn; Lundgren, Steinar; Risberg, Terje; Mjaaland, Ingvil; Leirvaag, Beryl; Miletic, Hrvoje; Lønning, Per Eystein (Journal article; Peer reviewed, 2012)
      Introduction Mutations affecting p53 or its upstream activator Chk2 are associated with resistance to DNA-damaging chemotherapy in breast cancer. ATM (Ataxia Telangiectasia Mutated protein) is the key activator of p53 ...
    • MDM2 promoter polymorphism del1518 (rs3730485) and its impact on endometrial and ovarian cancer risk 

      Gansmo, Liv Beathe; Bjørnslett, Merete Pauline; Halle, Mari Kyllesø; Salvesen, Helga; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Dørum, Anne; Lønning, Per Eystein; Knappskog, Stian (Journal article; Peer reviewed, 2017)
      Background The del1518 (rs3730485) polymorphism is an in/del variant in the MDM2 promoter P1. The variant is in complete linkage disequilibrium with MDM2 SNP309 (rs2279744) and has previously been found associated with ...
    • MDM2 Promoter SNP344T>A (rs1196333) Status Does Not Affect Cancer Risk 

      Knappskog, Stian; Gansmo, Liv Beathe; Romundstad, Pål Richard; Bjørnslett, Merete Pauline; Trovik, Jone; Sommerfelt-Pettersen, Jan; Løkkevik, Erik; Tollenaar, Rob A.E.M.; Seynaeve, Caroline; Devilee, Peter; Salvesen, Helga Birgitte; Dørum, Anne; Hveem, Kristian; Vatten, Lars Johan; Lønning, Per Eystein (Journal article; Peer reviewed, 2012)
      The MDM2 proto-oncogene plays a key role in central cellular processes like growth control and apoptosis, and the gene locus is frequently amplified in sarcomas. Two polymorphisms located in the MDM2 promoter P2 have been ...
    • MDM2 promoter SNP55 (rs2870820) affects risk of colon cancer but not breast-, lung-, or prostate cancer 

      Helwa, Reham; Gansmo, Liv Beathe; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Ryan, Bríd M.; Harris, Curtis C.; Lønning, Per Eystein; Knappskog, Stian (Journal article; Peer reviewed, 2016)
      Two functional SNPs (SNP285G > C; rs117039649 and SNP309T > G; rs2279744) have previously been reported to modulate Sp1 transcription factor binding to the promoter of the proto-oncogene MDM2, and to influence cancer risk. ...
    • MDM4 SNP34091 (rs4245739) and its effect on breast-, colon-, lung- and prostate cancer risk. 

      Gansmo, Liv Beathe; Romundstad, Pål Richard; Birkeland, Einar Elvbakken; Hveem, Kristian; Vatten, Lars Johan; Knappskog, Stian; Lønning, Per Eystein (Journal article; Peer reviewed, 2015-10-16)
      The MDM4 protein plays an important part in the negative regulation of the tumor suppressor p53 through its interaction with MDM2. In line with this, MDM4 amplification has been observed in several tumor forms. A ...
    • The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms 

      Venizelos, Andreas; Elvebakken, Hege; Perren, Aurel; Nikolaienko, Oleksii; Deng, Wei; Lothe, Inger Marie Bowitz; Couvelard, Anne; Hjortland, Geir Olav; Sundlöv, Anna; Svensson, Johanna; Garresori, Herish; Kersten, Christian; Hofsli, Eva; Detlefsen, Sönke; Krogh, Merete; Sørbye, Halfdan; Knappskog, Stian (Peer reviewed; Journal article, 2021)
      High-grade (HG) gastroenteropancreatic (GEP) neuroendocrine neoplasms (NEN) are rare but have a very poor prognosis and represent a severely understudied class of tumours. Molecular data for HG GEP-NEN are limited, and ...
    • Mutation Spectrum in Liquid Versus Solid Biopsies From Patients With Advanced astroenteropancreatic Neuroendocrine Carcinoma 

      Knappskog, Stian; Grob, Tobias; Venizelos, Andreas; Amstutz, Ursula; Hjortland, Geir Olav; Lothe, Inger Marie Bowitz; Kersten, Christian; Hofsli, Eva; Sundlöv, Anna; Elvebakken, Hege; Garresori, Herish; Couvelard, Anne; Svensson, Johanna; Sorbye, Halfdan; Perren, Aurel (Peer reviewed; Journal article, 2023)
      Purpose Gastroenteropancreatic neuroendocrine carcinomas (GEP-NEC) are rare and have a poor prognosis. Most GEP-NEC are diagnosed with metastatic disease, with only minor biopsies available for molecular diagnostics. We ...
    • Olaparib monotherapy as primary treatment in unselected triple negative breast cancer 

      Eikesdal, Hans Petter; Yndestad, Synnøve; Elzawahry, Asmaa; Llop-Guevara, Alba; Gilje, Bjørnar; Blix, Egil Støre; Espelid, Helge; Lundgren, Steinar; Geisler, Jürgen; Vagstad, Geirfinn; Venizelos, Andreas; Minsaas, Laura; Leirvaag, Beryl; Gudlaugsson, Einar; Vintermyr, Olav Karsten; Aase, Hildegunn Siv; Aas, Turid; Balmaña, Judith; Serra, Violeta; Janssen, Emiel; Knappskog, Stian; Lønning, Per Eystein (Peer reviewed; Journal article, 2020)
      Background The antitumor efficacy of PARP inhibitors (PARPi) for breast cancer patients harboring germline BRCA1/2 (gBRCA1/2) mutations is well established. While PARPi monotherapy was ineffective in patients with metastatic ...
    • Polymorphisms in the TP53-MDM2-MDM4-axis in patients with rheumatoid arthritis 

      Gansmo, Liv Beathe; Lie, Benedicte Alexandra; Mæhlen, Marthe Thoresen; Vatten, Lars Johan; Romundstad, Pål Richard; Hveem, Kristian; Lønning, Per Eystein; Knappskog, Stian (Peer reviewed; Journal article, 2021)
      Background In addition to being a tumour suppressor, TP53 is a suppressor of inflammation, and dysfunction of this gene has been related to autoimmune diseases. Patients with autoimmunity, such as rheumatoid arthritis ...
    • Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) 

      Knappskog, Stian; Gansmo, Liv Beathe; Dibirova, Khadizha; Metspalu, Andres; Cybulski, Cezary; Peterlongo, Paolo; Aaltonen, Lauri; Vatten, Lars Johan; Romundstad, Pål Richard; Hveem, Kristian; Devilee, Peter; Evans, Gareth D; Lin, Dongxin; Van Camp, Guy; Manolopoulos, Vangelis G; Osorio, Ana; Milani, Lili; Ozcelik, Tayfun; Zalloua, Pierre; Mouzaya, Francis; Bliznetz, Elena; Balanovska, Elena; Pocheshkova, Elvira; Kucinskas, Vaidutis; Atramentova, Lubov; Nymadawa, Pagbajabyn; Titov, Konstantin; Lavryashina, Maria; Yusupov, Yuldash; Bogdanova, Natalia; Koshel, Sergey; Zamora, Jorge; Wedge, David C.; Charlesworth, Deborah; Dörk, Thilo; Balanovsky, Oleg; Lønning, Per Eystein (Journal article; Peer reviewed, 2014)
      The MDM2 promoter SNP285C is located on the SNP309G allele. While SNP309G enhances Sp1 transcription factor binding and MDM2 transcription, SNP285C antagonizes Sp1 binding and reduces the risk of breast-, ovary- and ...