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: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE APC:T1556fs and STK11 mutations found in duodenal adenomas/ACs highlight the importance of proteins encoded by these genes in tumor development. 29525853 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Additionally, we performed multiregional, targeted next-generation sequencing (NGS) of adenomas and unmasked extensive heterogeneity, affecting known drivers such as APC, KRAS and mismatch repair (MMR) genes. 30166531 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group CTD_human The conserved protective cyclic AMP-phosphodiesterase function PDE4B is expressed in the adenoma and adjacent normal colonic epithelium of mammals and silenced in colorectal cancer. 30188895 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Progression from adenoma to invasive carcinoma requires accumulation of mutations starting with the Adenomatous Polyposis Coli (Apc) gene. 29438366 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE However, unlike the conventional pathway, truncating APC mutations were rare in the serrated pathway lesions especially sessile serrated adenomas even when dysplastic (15%) and in the BRAF mutant cancers with microsatellite instability that arise from them (8%). 29148535 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Our results support the hypothesis that <i>APC</i>-mutant colorectal tumors are transcriptionally distinct from <i>APC</i>-wild-type colorectal tumors with canonical WNT signaling activated by other mechanisms, with possible implications for stratification and prognosis.<b>Significance:</b> These findings suggest that colon adenomas driven by APC mutations are distinct from those driven by WNT gain-of-function mutations, with implications for identifying at-risk patients with advanced disease based on gene expression patterns.<i></i>. 29212857 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We identified mosaic variants in APC in adenomas from 9 of the 18 patients with 21 to approximately 100 adenomas. 27816598 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Molecular analyses revealed the gene mutations of GNAS in 6 (38%) of 16 DNGPs (4 [57%] adenomas, 1 [16%] NUMP, and 1 [33%] invasive adenocarcinoma) and APC in 4 of 15 (27%) DNGPs: no adenomas, 2 (33%) NUMPs, and 2 (67%) invasive adenocarcinomas. 27984236 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Taking into consideration the prevalent (>50 %) histology and presence of mutations, patients could be subdivided into four groups: (1) APC mutated polyposis (AFAP), when adenomas were >50 % and APC mutations detected (no. 27783336 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE The most frequently mutated genes were <i>APC, TP53</i> and <i>KRAS</i> with 30%, 15% and 21% frequencies in adenomas and 29%, 53% and 29% frequencies in carcinomas, respectively. 28243320 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Our WES data is largely matched with the earlier 'adenoma-carcinoma model' (APC, KRAS, NRAS and GNAS mutations), but there are newly identified SMAD4, MTOR, ACVR1B, GNAQ, ATM, CNOT1, EP300, ARID2, RET and MAP2K4 mutations in this study. 28179590 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Furthermore, frameshift mutations affecting repeat sequences constituted 14 of 26 APC mutations (54%) in MMR-deficient adenomas whereas these frameshift mutations were rare in MMR-proficient adenomas in patients with Lynch syndrome (1/12, 8%) and in sporadic adenomas (3/52, 6%). 28548127 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Adenomas had lower mutational rates than did colorectal cancers and showed recurrent alterations in known cancer driver genes (APC, KRAS, FBXW7, TCF7L2) and AIs in chromosomes 5, 7, and 13. 27221540 2016
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Formalin Fixed Paraffin Embedded tissue were studied for miRNA expression, KRAS, BRAF, PIK3CA mutations, and immuno-histochemistry for APC and p53 proteins for normal colon (n=11), hyperplastic polyps (n=11), high grade adenomas (n=10), low grade adenomas (n=34) and adenocarcinoma (n=13). 25496852 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE The serrated pathway (SP) can be viewed as two parallel, but partially overlapping, arrays of colorectal precursor lesions, and their respective endpoint carcinomas, that are distinct from those of the conventional adenoma-carcinoma sequence (APC-pathway). 25263173 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE NGS performed on polyps found no mutations in MAPK pathway genes, but found APC mutations in all tubular adenomas. 26202952 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Most of the approximately 13 high-penetrance genes that predispose to CRC primarily predispose to colorectal polyps, and each gene is associated with a specific type of polyp, whether conventional adenomas (APC, MUTYH, POLE, POLD1, NTHL1), juvenile polyps (SMAD4, BMPR1A), Peutz-Jeghers hamartomas (LKB1/STK11) and mixed polyps of serrated and juvenile types (GREM1). 26169059 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE In conclusion, common colorectal tumour risk alleles contribute to the development of multiple adenomas in patients without pathogenic germline APC or MUTYH variants. 24801760 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Mixed effects models revealed that mutations in APC, BRAF and KRAS occur at the transition from normal to adenoma stages whilst the hypermethylation of the Wnt antagonists continued to accumulate during the transitions from adenoma to carcinoma stages. 25432628 2014
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We postulated that some c.3920T>A carriers with multiple adenomas have other unidentified APC germ line or somatic mutations. 24416237 2014
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Here, we have used MeDIP-seq to analyse the DNA methylome of APC(Min) adenoma as a model for intestinal cancer initiation, and we present a list of more than 13,000 recurring differentially methylated regions (DMRs) characterizing intestinal adenoma of the mouse. 23408899 2013
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE One of the three atypical adenomas was hypermethylated for APC 1A. 23764768 2013
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE The lower APC mutation rate in flat adenomas compared to polypoid adenomas suggests that disruption of the Wnt-pathway may occur via different mechanisms in these two phenotypes. 22848674 2012
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE The frequent observation of constitutive activation of Wnt signaling due to loss-of-function mutations in the tumor suppressor gene APC or gain-of-function mutation in β-catenin in both adenomas and carcinomas, suggests perhaps that the Wnt pathway serves an early or initiating insult in the oncogenic process. 22266195 2012
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE In murine models of familial adenomatous polyposis, specifically the multiple intestinal neoplasia mouse (Min) and the polyposis in the rat colon (Pirc) rat, most adenomas have lost their WT copy of the Apc gene through loss of heterozygosity by homologous somatic recombination. 22308460 2012