• 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 ...
    • 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 ...
    • 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 ...
    • 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 ...
    • 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; ...
    • 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 ...