Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
0.600 GeneticVariation disease BEFREE While germline APC mutations predispose to WNT MB, germline mutations in SUFU, PTCH1, and TP53 predispose to SHH tumors. 24115570 2014
Entrez Id: 324
Gene Symbol: APC
APC
0.600 GeneticVariation disease BEFREE We report a patient with a novel adenomatous polyposis coli gene mutation leading to a severe phenotype including medulloblastoma, low-grade fibromyxoid sarcoma following cranial radiation, pilomatrixomas, colonic adenomas, and abdominal desmoid tumor following colectomy, all of which were successfully treated. 24309598 2014
Entrez Id: 324
Gene Symbol: APC
APC
0.600 AlteredExpression disease BEFREE CTNNB1, AXIN1 and APC expression analysis of different medulloblastoma variants. 23525311 2013
Entrez Id: 324
Gene Symbol: APC
APC
0.600 GeneticVariation disease BEFREE A 15-year-old girl with adenomatous polyposis coli gene (APC) mutation and brain tumor-polyposis syndrome developed an unusual succession of cervicocephalic tumors (medulloblastoma, meningeal low-grade myxoid tumor, and papillary thyroid carcinoma), at the age of 5, 9, and 15 years, respectively. 19564752 2009
Entrez Id: 324
Gene Symbol: APC
APC
0.600 GeneticVariation disease BEFREE Mutations in CTNNB1 were identified in 4% of CNS PNETs and 20% of medulloblastomas.No mutations were identified in APC. 19293793 2009
Entrez Id: 324
Gene Symbol: APC
APC
0.600 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
Entrez Id: 324
Gene Symbol: APC
APC
0.600 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
Entrez Id: 324
Gene Symbol: APC
APC
0.600 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
Entrez Id: 324
Gene Symbol: APC
APC
0.600 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
Entrez Id: 324
Gene Symbol: APC
APC
0.600 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
Entrez Id: 324
Gene Symbol: APC
APC
0.600 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
Entrez Id: 324
Gene Symbol: APC
APC
0.600 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
Entrez Id: 324
Gene Symbol: APC
APC
0.600 GeneticVariation disease UNIPROT APC mutations in sporadic medulloblastomas. 10666372 2000
Entrez Id: 324
Gene Symbol: APC
APC
0.600 GeneticVariation disease BEFREE Although medulloblastoma is a component of Turcot syndrome with demonstrated APC mutations, APC gene deletions appear to be absent or very uncommon in patients with sporadic and NBCCS-associated medulloblastomas. 10375116 1999
Entrez Id: 324
Gene Symbol: APC
APC
0.600 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
Entrez Id: 324
Gene Symbol: APC
APC
0.600 Biomarker disease CTD_human The molecular basis of Turcot's syndrome. 7661930 1995