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 56 adenomas (< or = 10 mm) from 39 patients were analysed for APC, CTNNB1 and K-ras mutations, allelic imbalance on 1p and 18q, microsatellite instability and immunohistochemical expression of HLA-DR, BAX, BCL-2 and Ki-67. 12737446 2003
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 GeneticVariation group BEFREE APC gene mutations in a jejunal adenoma causing intussusception in a patient with familial adenomatous polyposis. 12522539 2002
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 APC mutations were detected in 20 per cent (6/30) of the adenomas but in only 1.4 per cent (1/72) of the carcinomas. 7674088 1995
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Adenomatous polyposis coli (APC) gene mutations occur in most sporadic colonic adenomas and carcinomas. 7743497 1995
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE APC mutation was not found in 16 de novo carcinomas or the one pyloric gland-type adenoma examined. 8809879 1996
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 GeneticVariation group BEFREE All carcinomas with 5q LOH, 5q MSI, or methylation included at least one APC mutation, whereas 5 carcinomas and 6 adenomas showed solely an APC mutation. 12673484 2003
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Alterations of APC, KRAS and TP53 were observed in a higher percentage of adenocarcinomas compared to adenomas (P<0.05) indicating that the alterations accumulated with malignancy. 19576232 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Although many cases of classical familial adenomatous polyposis (> 100 polyps) can be accounted for by mutations in the adenomatous polyposis coli (APC) gene, a large group of patients remains with multiple (5-100) adenomas and in whom there is no detectable APC mutation. 16998667 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE An important role for beta-catenin pathways in colorectal carcinogenesis was first suggested by the protein's association with adenomatous polyposis coli (APC) protein, and by evidence of dysregulation of beta-catenin protein expression at all stages of the adenoma-carcinoma sequence. 11839557 2002
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE AXIN2 and MUTYH genes were screened for germline mutations by PCR and direct sequencing in 39 unrelated patients with multiple adenomas or colorectal cancer without evidence of APC mutation nor mismatch repair defect. 16941501 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Because adenomatous polyposis coli protein has a "gatekeeper role" in the adenoma-carcinoma sequence, replacing its function may reduce polyp formation. 15657662 2004
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Because alterations of the adenomatous polyposis coli (APC) gene are present in biliary tract cancers and the APC protein modulates levels of beta-catenin, we evaluated the role of beta-catenin in biliary tract cancer by sequencing the third exon of the beta-catenin gene among 107 biliary tract cancers and 7 gallbladder adenomas from a population-based study in CHINA: Point mutations of serine or threonine phosphorylation sites in exon 3 of beta-catenin were present in 8 of 107 (7.5%) biliary tract cancers and 4 of 7 (57.1%) gallbladder adenomas. 11309300 2001
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE By employing genomic sequencing, i.e., base-specific analysis of methylated cytosines, we show here that the promoter region of the APC gene is heavily methylated at CpG sites in patients with colorectal carcinoma in comparison with normal colonic mucosa and premalignant adenomas. 9096643 1997
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Cancers in hereditary non-polyposis colorectal cancer show features of both classical (adenoma and APC mutation) and alternative pathways (rapid evolution, MSI-H and lack of chromosomal instability). 11987262 2002
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Cell cycle activity was assessed using immunohistochemistry ofthe proliferation marker Ki67, and mutation analysis was carried out for KRAS and APC to determine the involvement of the adenoma-carcinoma sequence. 21412070 2011
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group LHGDN Clinical features of familial adenomas polyps in Chinese and establishment of its immortal lymphocyte cell lines. 17569124 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group LHGDN Complete loss of APC protein did not influence morphology, location, or appearance of adenomas, nor was it affected by the patient's age. 16804979 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Complete loss of APC protein did not influence morphology, location, or appearance of adenomas, nor was it affected by the patient's age. 16804979 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group LHGDN Cross-species comparison of human and mouse intestinal polyps reveals conserved mechanisms in adenomatous polyposis coli (APC)-driven tumorigenesis. 18403596 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group CTD_human Crypt stem cells as the cells-of-origin of intestinal cancer. 19092804 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group LHGDN CTNNB1 mutations were found in 2/19 adenomas without APC mutation. 12737446 2003
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Digital SNP analysis demonstrated loss of heterozygosity of APC only in the adenoma from the twin without PMP but not from the appendiceal or peritoneal tumors of the twin with PMP. 11474297 2001