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Cancer Epidemiol Biomarkers Prev. 2009 Sep;18(9):2352-65. doi: 10.1158/1055-9965.EPI-08-1184. Epub 2009 Sep 1.

The use of predictive or prognostic genetic biomarkers in endometrial and other hormone-related cancers: justification for extensive candidate gene single nucleotide polymorphism studies of the matrix metalloproteinase family and their inhibitors.

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Institute of Health and Biomedical Innovation, School of Life Sciences, Queensland University of Technology, Kelvin Grove, Queensland, Australia.


Genome-wide association studies have accelerated the discovery of single nucleotide polymorphisms (SNP) associated with susceptibility to complex diseases, including many malignancies. The matrix metalloproteinase (MMP) family of proteases are involved in many cell processes, most notably the degradation of the extracellular matrix, and differences in gene and protein expression have been reported to be associated with many cancers. Surprisingly, none of the SNPs located within these genes have been identified to be associated with cancer in the genome-wide association studies published to date. This may be in part due to the proportion and the tagging efficiency of MMP SNPs covered by high-throughput genotyping chips. This review will provide an overview of current evidence for MMPs and associated SNPs in endometrial and other hormone-related cancers, to provide justification for the further detailed studies of MMP SNPs as cancer markers.

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