APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group BEFREE These results suggest the following mechanisms for the development of colon tumors in patients with familial adenomatous polyposis: (a) the heterozygous mutant/wild-type condition at the APC gene causes formation of mild or moderate adenoma; (b) the loss of the normal allele in the APC gene leads to a change from moderate to severe adenoma; (c) LOH on chromosome 17p contributes to the conversion of adenoma to intramucosal carcinoma; (d) LOH on other chromosomes, such as 18 and 22q, are involved in the progression of intramucosal carcinoma to invasive carcinoma; and (e) K-ras mutation may also affect the development of moderate to severe adenoma. 1977514 1990
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 Biomarker group CTD_human We determined the genomic structure of the rat Apc gene, and we analyzed mutations in colon tumors induced in F344 rats by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) and 2-amino-3-methylimidazo[4,5-f]quinoline (IQ), potent carcinogens contained in ordinary daily human food. 7846077 1995
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 Biomarker group CTD_human Only 2 of 13 IQ-induced colon tumors had mutations of the APC gene and these were base substitution mutations. 8608549 1996
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group BEFREE These results indicate that the colon tumor of the TS patient carries the Ki-ras and APC gene mutations. 9589476 1998
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 Biomarker group CTD_human Neonatal exposure to the food mutagen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine via breast milk or directly induces intestinal tumors in multiple intestinal neoplasia mice. 10383901 1999
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 PosttranslationalModification group BEFREE Our results support the view that malignant progression is a consequence of more than one genetic change and suggest that inactivation of APC and DCC genes plays a role in a multistep process of colon tumor progression. 10090594 1999
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group BEFREE Recent evidence suggests that the beta-catenin gene (CTNNB1) acts as an oncogene, and some human colon tumors with an intact APC gene have activating mutations in CTNNB1. 10204808 1999
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 Biomarker group BEFREE Recently defined target genes are c-myc and cyclin D1, linking the APC gene defect to the capacity for autonomous proliferation of colon tumors. 10514384 1999
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 AlteredExpression group LHGDN Evidence that APC regulates survivin expression: a possible mechanism contributing to the stem cell origin of colon cancer. 11751382 2001
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group BEFREE PhIP in the diet for >43 weeks present colon tumors with specific -1G mutations within 5'-GGGA-3' sequences of the APC: gene. 11181456 2001
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 Biomarker group CTD_human One dose of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) or 2-amino-3-methylimidazo[4,5-f]quinoline (IQ) induces tumours in Min/+ mice by truncation mutations or LOH in the Apc gene. 12034317 2002
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group BEFREE We determined the error spectrum of DNA polymerase beta in the human APC gene under PCR conditions and compared it with the set of mutations reported in human colon tumors. 12036944 2002
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group BEFREE To study the role of APC in signaling ODC expression, we used the human colon tumor cell line HT29 (wtAPC-/-), which has been stably transfected with a zinc-inducible wild-type APC gene. 12112318 2002
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 Biomarker group BEFREE The different pathways observed and their distribution can be summarized as follows: (a) K-ras mutations were more commonly detected in colon than in rectum; (b) the number of mutations detected was significantly higher in colon than in rectal tumors; and (c) a mutational pattern restricted to the APC gene was more common in rectal than in colon tumors. 15217933 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group LHGDN Colorectal cancer prevention. 15375803 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group BEFREE From this descriptive study, it seems that the short-term risk for colonic polyps in I1307K APC mutation is low, primarily affecting patients with previously diagnosed colon tumors. 15733272 2005
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 AlteredExpression group LHGDN Tumor suppressor APC blocks DNA polymerase beta-dependent strand displacement synthesis during long patch but not short patch base excision repair and increases sensitivity to methylmethane sulfonate. 15548520 2005
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group BEFREE Total meat consumption was not associated with the endpoints studied.Meat product (i.e. processed meat) consumption showed a positive association with colon tumours harbouring a truncating APC mutation, whereas beef consumption was associated with an increased risk of colon tumours without a truncating APC mutation (incidence rate ratio (RR) highest versus lowest quartile of intake 1.61, 95% confidence interval (CI) 0.96-2.71, p-trend = 0.04 and 1.58, 95% CI 1.10-2.25, p-trend = 0.01, respectively). 16184469 2005
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 AlteredExpression group LHGDN Truncated APC is required for cell proliferation and DNA replication. 16450383 2006
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 Biomarker group LHGDN Examination of actin and microtubule dependent APC localisations in living mammalian cells. 16423286 2006
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group BEFREE The majority of colon tumors develop because of mutations in the tumor suppressor APC that lead to Wnt/beta-catenin signaling activation and subsequent transcription of target genes, including conductin/AXIN2. 16815967 2006
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 Biomarker group BEFREE Relatively high folate consumption reduced the risk of APC(-) colon tumors, but folate intake was positively associated with APC(+) colon tumors among men. 17116713 2006
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 Biomarker group BEFREE Although it is weaker than that in Apc gene-deficient mice, it may be linked to colon tumor development. 16478792 2006
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 Biomarker group CTD_human Comet fluorescence in situ hybridization analysis for oxidative stress-induced DNA damage in colon cancer relevant genes. 17192441 2007
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.600 GeneticVariation group BEFREE We reliably detected germline SNPs and discovered a colon tumor specific nonsense mutation in APC, a gene causally implicated in colorectal cancer. 18849522 2008