• C77G in PTPRC (CD45) is no risk allele for ovarian cancer, but associated with less aggressive disease 

      Landskron, Johannes; Kraggerud, Sigrid M.; Wik, Elisabeth; Dørum, Anne; Bjørnslett, Merete Pauline; Melum, Espen; Helland, Øystein; Bjørge, Line; Lothe, Ragnhild A; Salvesen, Helga; Tasken, Kjetil (Peer reviewed; Journal article, 2017-07-31)
      The pan lymphocyte marker CD45 exists in various isoforms arising from alternative splicing of the exons 4, 5 and 6. While naïve T cells express CD45RA translated from an mRNA containing exon 4, exons 4–6 are spliced out ...
    • Effect of the MDM2 promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer in BRCA1 mutation carriers 

      Bjørnslett, Merete; Knappskog, Stian; Lønning, Per Eystein; Dørum, Anne (Peer reviewed; Journal article, 2012-10-05)
      Background: While BRCA mutation carriers possess a 20-40% lifetime risk of developing ovarian cancer, knowledge about genetic modifying factors influencing the phenotypic expression remains obscure. We explored the ...
    • 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 ...
    • 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 ...
    • 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 ...