Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease CTD_human Genetic alterations in rat colon tumors induced by heterocyclic amines. 8608549 1996
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Here, we report a de novo germline mutation of APC as the causal variant in a Chinese family with inheritable colon cancer by the next generation sequencing. 24735542 2014
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression disease BEFREE Here, we report that the expression status of adenomatous polyposis coli (APC) protein determines the relative sensitivity of colon cancer cells to HDAC inhibitor-induced apoptosis. 16982769 2006
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE High-resolution banding studies indicated that the deletion in the patient with polyposis spans the region 5q21-q22, which includes APC, a gene involved in familial adenomatous polyposis and sporadic colon cancer. 1315124 1992
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarriers. 12822869 2003
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE In a series of 11 microsatellite stable (MSS) and 9 microsatellite unstable (MSI) colon cancer cell lines and primary colon carcinomas (25 MSS and 28 MSI) with known ploidy stem line and APC, KRAS, and TP53 mutation status, we analyzed the promoter methylation of the following genes: hMLH1, MGMT, p16INK4a (CDKN2A alpha-transcript), p14ARF (CDKN2A beta-transcript), APC, and E-cadherin (CDH1). 15476557 2004
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE In addition, recent data on APC gene mutations challenges the existing paradigm for colon cancer carcinogenesis and precursor lesions, which may in turn have clinical implications for cancer prevention. 18482722 2008
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE In order to assess whether chronic infection with T. muris does indeed influence the development of cancer hallmarks, both wild type mice and colon cancer model (APC min/+) mice were infected with this parasite. 28650985 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE Inactivation of the tumor suppressor adenomatous polyposis coli (APC) protein is a critical early step in the development of familial and sporadic colon cancer. 11237529 2001
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE It is important to evaluate the effects of proposed interventions to reduce the risk of disease among carriers of a highly penetrant mutation, such as the mutations in BRCA1 and BRCA2 for breast and ovarian cancers or in APC and MLH1 or MSH2 for colon cancer. 15316055 2004
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Loss of heterozygosity of APC and DCC tumor suppressor genes in human sporadic colon cancer. 10090594 1999
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE Mutant forms of beta-catenin have been discovered in colon cancers that retain wild-type APC genes, and also in melanomas, medulloblastomas, prostate cancer and gastric and hepatocellular carcinomas. 10201372 1999
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE Mutation analysis was performed for p53 in eight colon cancers and for APC and p53 in 22 rectal cancers. 11592095 2001
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Mutations in the APC gene give rise to familial adenomatous polyposis (FAP) and also occur in many, perhaps most, sporadic colon cancers. 1355210 1992
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Mutations in the adenomatous polyposis coli (APC) gene, which initiate almost all human colon cancers, directly target the proto-oncogene, c-myc, by elevating beta-catenin/T-cell factor (TCF) signaling. 12414619 2002
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease BEFREE Mutations in the adenomatous polyposis coli gene (which encodes a protein called APC) are associated with the formation of intestinal polyps and colon cancers. 8990193 1997
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker disease CTD_human Neonatal exposure to the food mutagen 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine via breast milk or directly induces intestinal tumors in multiple intestinal neoplasia mice. 10383901 1999