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: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE In pediatric patients tested positive for germline mutation of APC gene screening for hepatoblastoma using alpha-fetoprotein and liver ultrasound should be performed. 30836352 2019
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Conflicting reports on the frequency of germline adenomatous polyposis coli (APC) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC mutation testing on apparently sporadic HB. 29251405 2018
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Hepatoblastoma may present at birth, and screening for hepatoblastoma in infancy in families with FAP prior to APC mutation testing results may be warranted. 29719120 2018
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE In summary, the obtained results imply that an APC mutant together with an X-linked WAS mutant, could lead to HB tumorigenesis by activating Wnt and PLK1 signaling, inhibiting TCR signaling, and reducing the antitumor activity of natural killer and dendritic cells. 30619485 2018
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2. 29190888 2017
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE We report 3 children with APC gene mutation, who underwent resection or liver transplant for HB. 23715166 2013
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Presuming that the HB in the two siblings was the first manifestation of FAP we performed APC mutation analysis in DNA from archived tumour tissue of his sister and in blood samples of both parents. 22692730 2012
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE Could APC gene screening be useful in children with hepatoblastoma? Early onset of adenocarcinoma in a child with familial adenomatous polyposis and hepatoblastoma. 20210251 2010
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE We investigated a series of 21 sporadic paraffin-embedded hepatoblastoma cases for mutations in the p53 (exons 5-8) and beta-catenin (exon 3) genes, loss of heterozygosity at APC, microsatellite instability and immunohistochemical expression of beta-catenin and of the two main mismatch repair proteins, MLH1 and MSH2. 17962810 2008
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE In addition, 50 patients with apparently sporadic HB were examined for APC germline mutations. 16317745 2006
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE The Wnt/beta-catenin/T-cell factor (Tcf) pathway is aberrantly up-regulated in the majority of colorectal cancers (CRC) and hepatoblastomas due to either an APC or beta-catenin gene mutation. 17047077 2006
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE The spectrum of APC mutations in children with hepatoblastoma from familial adenomatous polyposis kindreds. 16126064 2005
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE These observations suggest that accumulation of beta-catenin without an additional somatic mutation in the APC gene might be a possible mechanism for tumorigenesis of hepatoblastoma in the FAP families. 14654913 2004
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Familial hepatoblastoma and APC gene mutations: renewed call for molecular research. 14522379 2003
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Although an association between hepatoblastoma and familial adenomatous polyposis is recognized, the breakpoint in this case is distal to 5q21 and most probably does not involve the APC gene at that location. 10812168 2000
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Our data indicate for the first time that beta-catenin accumulation may play a role in the development of hepatoblastoma and that activating mutations of the beta-catenin gene may substitute biallelic APC inactivation in this tumor type. 10398436 1999
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE To elucidate the possible roles of APC gene alterations in sporadic hepatoblastomas, we examined loss of heterozygosity (LOH) at the APC and MCC loci and performed a sequencing analysis of a part of the APC gene, including the mutation cluster region, in 13 hepatoblastomas of non-familial adenomatous polyposis patients. 8764128 1996
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE APC gene mutation was identified in all seven FAP kindreds in which an at risk member developed hepatoblastoma. 9038672 1996
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE To determine whether inactivation of the APC gene plays a role in development of HBL, 13 sporadic infantile hepatic tumors were analyzed for genetic alterations in the APC gene. 7585543 1995
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease MGD
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease HPO
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 CausalMutation disease CLINVAR
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 CausalMutation disease CGI
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GenomicAlterations disease CGI