{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nakagawa H"],"funding":["NCI NIH HHS"],"pagination":["591-6"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC14632"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["98(2)"],"pubmed_abstract":["We hypothesize that loss of imprinting (LOI) of the insulin-like growth factor II (IGF2) gene is associated with a predisposition to sporadic colorectal cancer. We confirmed a previously known strong correlation between LOI and microsatellite instability and showed that LOI was not a consequence of microsatellite instability or mismatch repair deficiency. LOI of IGF2 correlated strongly with biallelic hypermethylation of a core of five CpG sites in the insulator region of IGF2/H19, which is a known CTCF-binding element. As this methylation-dependent LOI was present in both tumors and normal colonic mucosa, it is possible that hypermethylation creates a field defect predisposing to cancer."],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites in colorectal cancer."],"pmcid":["PMC14632"],"funding_grant_id":["P30 CA016058","U01 CA067941","R01 CA067941","CA67941","CA16058"],"pubmed_authors":["Peltomaki P","de La Chapelle A","Plass C","Chadwick RB","Nakamura Y","Nakagawa H"],"additional_accession":[]},"is_claimable":false,"name":"Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites in colorectal cancer.","description":"We hypothesize that loss of imprinting (LOI) of the insulin-like growth factor II (IGF2) gene is associated with a predisposition to sporadic colorectal cancer. We confirmed a previously known strong correlation between LOI and microsatellite instability and showed that LOI was not a consequence of microsatellite instability or mismatch repair deficiency. LOI of IGF2 correlated strongly with biallelic hypermethylation of a core of five CpG sites in the insulator region of IGF2/H19, which is a known CTCF-binding element. As this methylation-dependent LOI was present in both tumors and normal colonic mucosa, it is possible that hypermethylation creates a field defect predisposing to cancer.","dates":{"release":"2001-01-01T00:00:00Z","publication":"2001 Jan","modification":"2025-04-26T23:44:37.461Z","creation":"2019-03-26T23:45:16Z"},"accession":"S-EPMC14632","cross_references":{"pubmed":["11120891"],"doi":["10.1073/pnas.98.2.591"]}}