• Associations between the MDM2 promoter P1 polymorphism del1518 (rs3730485) and incidence of cancer of the breast, lung, colon and prostate 

      Gansmo, Liv Beathe; Vatten, Lars Johan; Romundstad, Pål Richard; Hveem, Kristian; Ryan, Bríd M.; Harris, Curtis C.; Knappskog, Stian; Lønning, Per Eystein (Peer reviewed; Journal article, 2016-04-12)
      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 ...
    • 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; Lønning, Per Eystein (Peer reviewed; Journal article, 2015-07)
      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 (Peer reviewed; Journal article, 2017-02-03)
      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 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 (Peer reviewed; Journal article, 2016-09-14)
      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 (Peer reviewed; Journal article, 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 polymorphism ...
    • The MDM4 SNP34091 (rs4245739) C-allele is associated with increased risk of ovarian—but not endometrial cancer 

      Gansmo, Liv Beathe; Bjørnslett, Merete Pauline; Halle, Mari Kyllesø; Salvesen, Helga Birgitte; Dørum, Anne; Birkeland, Einar Elvbakken; Hveem, Kristian; Romundstad, Pål Richard; Vatten, Lars Johan; Lønning, Per Eystein; Knappskog, Stian (Peer reviewed; Journal article, 2016-02-11)
      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 ...
    • 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 (Journal article; Peer reviewed, 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 (Peer reviewed; Journal article, 2014-04-18)
      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 ...