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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE The purpose of this study was also to evaluate whether the LOH at the APC gene is associated with clinicopathological characteristics in sporadic colon cancer. 15507235 2004
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE The APC gene is a putative human tumor-suppressor gene responsible for adenomatous polyposis coli (APC), an inherited, autosomal dominant predisposition to colon cancer. 8381581 1993
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Mutations in APC or CTNNB1 are highly frequent in colon cancer and cause aberrant stabilization of CTNNB1, which activates the transcription of Wnt target genes by binding to chromatin via the TCF/LEF transcription factors. 24651522 2014
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Studies such as those on APC I1307K and CHEK2 1100delC may suggest the way forward for the identification of 'breast-colon cancer' genes. 14574178 2001
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Conventional adenomas arise from mutation of the APC gene; progression to colon cancer is a multistep process. 18313537 2008
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Our findings suggest APC mutations alter regulation of both beta- and gamma-catenin, perhaps explaining why the frequency of APC mutations in colon cancer far exceeds that of beta-catenin mutations. 10837025 2000
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE The apparently low incidence of colon cancer in the African population may be ascribed either to the rare occurrence of the 'second hit' needed for polyp formation or to a lower incidence of mutations in the APC gene. 12000364 2002
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE We initially validated that INSIG2 is a gene with univariate-negative prognostic capacity to discriminate human colon cancer survivorship and that if present along with adenomatous polyposis coli (APC) gene mutations further decrease overall survival. 26662938 2016
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE We have shown that the family's phenotype does not result from APC mutations (including the I1307K variant) or from genetic changes in the other known genes that predispose to colon cancer. 10092300 1999
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Somatic mutations of the APC gene have also been identified in the majority of sporadic colorectal carcinomas, and mutation of the APC gene appears to be an early step in the initiation of colon cancer. 21518821 2011
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Truncating mutations affect the adenomatous polyposis coli (APC) gene in most cases of colon cancer, resulting in the stabilization of β-catenin and uncontrolled cell proliferation. 23840886 2013
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Survivin-induced Aurora-B kinase activation: A mechanism by which APC mutations contribute to increased mitoses during colon cancer development. 21057000 2010
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Mutation in the adenomatous polyposis coli (APC) gene is considered to be one of the earliest events in the colon cancer development. 15769611 2005
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE In blinded specimens and colon cancer cell lines with defined mutations, ColoSeq correctly identified 28/28 (100%) pathogenic mutations in MLH1, MSH2, MSH6, PMS2, EPCAM, APC, and MUTYH, including single nucleotide variants (SNVs), small insertions and deletions, and large copy number variants. 22658618 2012
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Heme induces multiple genetic alterations by regulating WNT signalling pathway and causing mutations in major colon cancer genes such as APC, TP53 and KRAS. 29759553 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Therefore, this model may have some relevance and application to the study of colon cancer in human inflammatory bowel disease, which is not associated with APC mutations or with Ki-ras or p53 mutations. 9433483 1997
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Mutations in APC or in beta-catenin, which are common in colon cancer, lead to constitutive activation of beta-catenin/Tcf-dependent signaling. alpha-Catenin is also found in some colon cancer cell nuclei, and loss of its expression correlates with increased beta-catenin/Tcf transcriptional activity. 15051498 2004
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE The reported association between the APC I1307K mutation and colon cancer risk was supported by a correlation in these data between personal or family history of CRC or polyps and a gene mutation. 10756345 2000
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Here we report the disruption of the APC gene caused by somatic insertion of a long interspersed repetitive element (LINE-1 sequence) into the last exon of the APC gene in a colon cancer. 1310068 1992
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE The adenomatous polyposis coli (APC) gene was first identified as the gene mutated in an inherited syndrome of colon cancer predisposition known as familial adenomatous polyposis coli (FAP). 10784639 2000
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE In summary, we did not detect any functional mutations of the APC gene in a wide variety of tumors except for a colon cancer cell line, suggesting that alterations of the APC gene do not have a major role in the development of lung and renal cancers, various types of sarcomas, or hematological malignancies. 9083931 1997
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Ethanol-induced mast cell-mediated inflammation leads to increased susceptibility of intestinal tumorigenesis in the APC Δ468 min mouse model of colon cancer. 23320800 2013
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers. 12822869 2003
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE To explore this idea, data from a Dutch population-based case-control study (184 cases, 259 controls) on sporadic colon cancer were used to assess associations between dietary factors and the occurrence of truncating mutations in the adenomatous polyposis coli (APC) gene in carcinomas. 12584179 2003