MDM2 SNP309 is associated with high grade node positive breast tumours and is in linkage disequilibrium with a novel MDM2 intron 1 polymorphism
2008

MDM2 SNP309 and Breast Cancer

Sample size: 574 publication 10 minutes Evidence: moderate

Author Information

Author(s): Paulin Fiona EM, O'Neill Mary, McGregor Gillian, Cassidy Andrew, Ashfield Alison, Ali Clinton W, Munro Alastair J, Baker Lee, Purdie Colin A, Lane David P, Thompson Alastair M

Primary Institution: University of Dundee

Hypothesis

Is MDM2 SNP309 associated with breast cancer characteristics in a Scottish population?

Conclusion

SNP309G/G is associated with poor prognostic breast cancer features in the Scottish population.

Supporting Evidence

  • SNP309G/G genotype was associated with high grade tumours.
  • The 309G/G genotype was linked to greater nodal involvement.
  • No association was found between SNP309 and earlier age of cancer diagnosis.

Takeaway

This study looked at a gene variant in breast cancer patients and found that one specific version of the gene is linked to more serious cancer cases.

Methodology

The study sequenced MDM2 intron 1 from 299 breast cancer patients and 275 cancer-free controls and compared the results with clinical parameters.

Potential Biases

Potential selection bias due to the specific population studied.

Limitations

The study's sample size may not be large enough to draw definitive conclusions about the associations observed.

Participant Demographics

Scottish Caucasian population, including 299 breast cancer patients and 275 cancer-free controls.

Statistical Information

P-Value

0.025

Confidence Interval

1.06–2.53

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2407-8-281

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