APC, APC regulator of WNT signaling pathway, 324

N. diseases: 95; N. variants: 596
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human CtBP interacts with adenomatous polyposis coli (APC) protein, and is stabilized in both APC-mutated human colon cancers and Apc<sup>min/+</sup> intestinal polyps. 28414304 2017
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT Here we applied whole-genome sequencing (WGS) to the DNA of a sporadic FAP patient in which we did not find any pathological APC mutations by direct sequencing. 27217144 2016
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease GENOMICS_ENGLAND We give evidence that this extracolonic manifestation of FAP is determined by the same germline mutation of the APC gene responsible for colonic polyps and cancer but also shows some unusual features (F : M ratio = 80 : 1, absence of LOH for APC in the thyroid tumoral tissue, and indolent biological behaviour, despite frequent multicentricity and lymph nodal involvement), suggesting that the APC gene confers only a generic susceptibility to thyroid cancer, but perhaps other factors, namely, modifier genes, sex-related factors, or environmental factors, are also required for its phenotypic expression. 26697262 2015
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human Resveratrol prevents tumorigenesis in mouse model of Kras activated sporadic colorectal cancer by suppressing oncogenic Kras expression. 25280562 2014
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human The concentrations of EGFR, LRG1, ITIH4, and F5 in serum correlate with the number of colonic adenomas in ApcPirc/+ rats. 25200834 2014
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. 21643010 2011
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human We could not detect any somatic mutations in tumor C. We conclude that somatic mutation analysis of the APC gene can be used to identify whether a recurrent desmoid tumor in a patient with FAP is a new primary tumor or a recurrence from microscopic remnants of the original tumor. 18704758 2009
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human Chemoprevention of familial adenomatous polyposis by natural dietary compounds sulforaphane and dibenzoylmethane alone and in combination in ApcMin/+ mouse. 17942926 2007
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case. 12394442 2002
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human Attenuated familial adenomatous polyposis associated with advanced rectal cancer in a 16-year-old boy: report of a case. 11766074 2001
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human Intestinal tumours induced by the food carcinogen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine in multiple intestinal neoplasia mice have truncation mutations as well as loss of the wild-type Apc(+) allele. 11420398 2001
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human Resveratrol inhibits intestinal tumorigenesis and modulates host-defense-related gene expression in an animal model of human familial adenomatous polyposis. 11588890 2001
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human [Familial adenomatous colonic polyposis]. 11040535 2000
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT We have found that FAP patients with germline APC mutations within a small region (codons 1,194-1,392 at most) mainly show allelic loss in their colorectal adenomas, in contrast to other FAP patients, whose 'second hits' tend to occur by truncating mutations in the mutation cluster region. 10470088 1999
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT We screened the entire coding region of the APC gene for mutations in an unselected series of 105 Dutch FAP kindreds. 8990002 1997
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT Germ-line mutations in the adenomatous polyposis coli (APC) gene characteristic of familial adenomatous polyposis were evaluated, as well as DNA replication errors and germline mutations in nucleotide mismatch-repair genes characteristic of hereditary nonpolyposis colorectal cancer. 7661930 1995
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 Biomarker disease CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957 1994
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT We examined the first 14 exons of the APC gene in 46 polyposis coli patients. 7833149 1994
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients. 7833931 1994
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT Our results provide information helpful to an understanding of the APC gene and will also contribute to presymptomatic diagnosis of members in FAP families. 1338764 1992
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT We examined somatic mutations of the adenomatous polyposis coli (APC) gene in 63 colorectal tumors (16 adenomas and 47 carcinomas) developed in familial adenomatous polyposis (FAP) and non-FAP patients. 1338904 1992
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma. 1338691 1992
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
1.000 GeneticVariation disease UNIPROT These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS. 1651563 1991