HGNC:9671 3p21-p14 MIM.176886
Monday 28 November 2011
DNA methylation is a hallmark in a subset of right-sided colorectal cancers. Methylation-based screening may improve prevention and survival rate for this type of cancer, which is often clinically asymptomatic in the early stages.
Methylation-associated changes in CTCF binding to PTPRG intron 1 could have implications on tumour gene expression by enhancer blocking, chromosome loop formation or abrogation of its insulator function.
The high sensitivity and specificity for the PTPRG intron 1 methylation in both sporadic and hereditary colon cancers support biomarker potential for early detection of colon cancer.
Tumour-specific methylation of PTPRG intron 1 locus in sporadic and Lynch syndrome colorectal cancer. van Roon EH, de Miranda NF, van Nieuwenhuizen MP, de Meijer EJ, van Puijenbroek M, Yan PS, Huang TH, van Wezel T, Morreau H, Boer JM. Eur J Hum Genet. 2011 Mar;19(3):307-12. PMID: 21150880