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 GeneticVariation disease BEFREE We report novel APC mutations and present two FAP cases that suggest familial aggregation of thyroid cancer and demonstrate the need to consider attenuated FAP also among elderly patients with colon cancer. 19036155 2008
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE The adenomatous polyposis coli (APC) protein tumor suppressor is mutated in the majority of colon cancers. 18160396 2008
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
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 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE APC mutations were associated with poor prognosis in (5-fluorouracil treated) stage III colon cancers (p = 0.005; HR = 4.1), an effect that was further enhanced by mutations in MAPK pathway (KRAS, NRAS, BRAF) genes. 27729614 2016
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Truncating mutations of the APC gene result in the constitutive stabilisation of β-catenin and the initiation of colon cancer, although tumour cells tolerate the expression of wild-type APCL. 24722208 2014
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: 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 GeneticVariation disease BEFREE The APC gene, mutations in which are responsible for the inherited colon cancer syndrome adenomatous polyposis coli (APC), is described as a tumor suppressor gene. 7882361 1995
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE We sought to create a transgenic mouse with Cre recombinase (Cre) expression limited to the epithelial cells of the large intestine and used this model to study colon cancer driven by adenomatosis polyposis coli (APC) gene inactivation. 20663863 2010
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE An in vitro-derived "TAK1 dependency signature" is enriched in primary human colon cancers with mutations in both APC and KRAS, suggesting potential clinical utility in stratifying patient populations. 22341439 2012
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE We have found a significant concordance between the in vitro replication errors of human DNA polymerase beta and in vivo point mutations of the adenomatous polyposis coli (APC) gene that leads to colon cancer. 12036944 2002
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Conventional adenomas arise from mutation of the APC gene; progression to colon cancer is a multistep process. 18313537 2008
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 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 GeneticVariation disease BEFREE APC gene mutations have been associated to have a role in colon cancer and since gastric and colon tumors share some common genetic lesions, it is relevant to investigate the role of APC tumor suppressor gene in gastric cancer. 28576136 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Since the Adenomatous Polyposis Coli (APC) gene is mutated in the majority of human colon cancers and often occurs simultaneously with PIK3CA mutations, we sought to better understand the interaction between APC and PIK3CA mutations in the mammalian intestine. 23708654 2014
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE Defects in the APC-beta-catenin pathway are common in colon cancer. 10507776 1999
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation disease BEFREE The purpose of this study was to determine whether this D1822V [corrected] variant of the APC gene is associated with colon cancer and whether its association is influenced by other genetic or environmental factors. 11221825 2001