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: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE Medulloblastomas associated with APC pathogenic variant have an overall favorable outcome, even for metastatic tumors. 31504825 2020
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors. 30523493 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE The MB subgroups with the worst prognosis have a significant association with chromosome 17 abnormalities and irregularities of APC/C cyclosome genes. 27592301 2017
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE While germline APC mutations predispose to WNT MB, germline mutations in SUFU, PTCH1, and TP53 predispose to SHH tumors. 24115570 2014
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 AlteredExpression disease BEFREE CTNNB1, AXIN1 and APC expression analysis of different medulloblastoma variants. 23525311 2013
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE The mutational status of APC and CTNNB1 (beta-catenin) was investigated in 33 CNS PNETs and 22 medulloblastomas. 19293793 2009
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE In patients with FAP and identifiable APC gene mutation, CNS tumors, especially medulloblastoma which developed in most cases during childhood, are more common in females with FAP and APC gene mutation in codons 686-1217. 17238184 2007
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE Previous genetic studies in MBs have identified mutations in genes coding for beta-catenin and its partners, APC and AXIN1, which cause activation of Wnt signaling. 17373666 2007
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 AlteredExpression disease BEFREE To understand the functional role of the WNT pathway in medulloblastoma, we have investigated the intracellular distribution of beta-catenin in a series of 17 human medulloblastomas to correlate such expression with neuronal differentiation and in cultured cell models following functional silencing of the APC gene by small-interference RNA (siRNA). 17455096 2007
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 Biomarker disease BEFREE APC is a critical component of the Wnt/Wingless signaling pathway, which is disrupted in sporadic cancers (e.g., colorectal adenomas, hepatocellular carcinomas, and medulloblastomas) by somatic mutations affecting multiple genes encoding alternative pathway components, including APC and CTNNB1 (encoding beta-catenin). 16843107 2006
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE Medulloblastomas from children entered onto the International Society for Pediatric Oncology (SIOP)/United Kingdom Children's Cancer Study Group (UKCCSG) PNET3 trial (n = 109) were examined for beta-catenin immunoreactivity, and where tissue was available, evidence of CTNNB1 and APC mutations. 16258095 2005
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE Germline mutations of APC in patients with Turcot syndrome (colon cancer and medulloblastoma), was well as somatic mutations of APC, beta-catenin, and Axin in sporadic medulloblastomas (MBs) have shown the importance of WNT signaling in the pathogenesis of MB. 15077159 2004
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE A subset of cases is associated with colon cancer and APC germline mutations (Turcot syndrome), and APC and beta-catenin point mutations occur in up to 10% of sporadic cases, indicating the involvement of the Wnt pathway in the development of medulloblastoma. 12555076 2003
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease UNIPROT APC mutations in sporadic medulloblastomas. 10666372 2000
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 Biomarker disease BEFREE The adenomatous polyposis coli (APC) gene, a member of the Wingless/Wnt signal transduction pathway, has been implicated in the development of medulloblastomas in Turcot's syndrome. beta-catenin also functions in this highly conserved signaling pathway and is instrumental in growth and development. 10759189 2000
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE Although medulloblastoma tumorigenesis has been associated strongly with FAP associated with APC germline mutation, none of the 22 informative sporadic cases revealed loss of heterozygosity of the APC gene locus. 10375116 1999
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 GeneticVariation disease BEFREE Risk analysis shows increased incidence of medulloblastoma in FAP patients, but APC mutations are not found in sporadic glioma or medulloblastoma. 9215849 1997
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 Biomarker disease CTD_human The molecular basis of Turcot's syndrome. 7661930 1995
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 Biomarker disease HPO