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Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in Hyperplastic Polyposis Syndrome

Drini, Musa; Wong, Nicholas C.; Scott, Hamish S.; Craig, Jeffrey M.; Dobrovic, Alexander; Hewitt, Chelsee A.; Dow, Christofer; Young, Joanne P.; Jenkins, Mark A.; Saffery, Richard; Macrae, Finlay A.


BACKGROUND Hyperplastic Polyposis Syndrome (HPS) is a condition associated with multiple serrated polyps, and an increased risk of colorectal cancer (CRC). At least half of CRCs arising in HPS show a CpG island methylator phenotype (CIMP), potentially linked to aberrant DNA methyltransferase (DNMT) activity. CIMP is associated with methylation of tumor suppressor genes including regulators of DNA mismatch repair (such as MLH1, MGMT), and negative regulators of Wnt signaling (such as WIF1). In...[Show more]

CollectionsANU Research Publications
Date published: 2011-02-10
Type: Journal article
Source: PLoS ONE
DOI: 10.1371/journal.pone.0016831


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