MDM2 polymorphisms

The expression of the oncogene MDM2 is elevated in many cancers, and high expression levels are considered to cause tumour growth. In the general population there are multiple genetic variants (polymorphisms) in the promoter of this gene, and these are presumed to influence the levels of MDM2 expression and thus potentially cancer risk.

We have analyzed several MDM2 polymorphisms in a large number of samples from the Norwegian population and found that they have an impact on cancer risk. In particular we have found a polymorphism (SNP285) that affects the binding of both Sp1 and the estrogen receptor to reduce the risk of frequent female cancers (breast- and ovarian cancer).

Key publications:

• Gansmo et al. International J. Cancer, 2016
• Helwa et al. Scientific Rep., 2016
• Knappskog et al. European J. Cancer, 2012
• Knappskog et al. Cancer Cell, 2011