CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE The prevalence of APC truncation mutants in colorectal tumors and the ability of these alleles to act dominantly to inhibit the mitotic spindle place chromosome instability at the earliest stage of colorectal cancer progression (i.e., prior to deregulation of beta-catenin). 19928352 2009
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE We therefore used PCR to amplify and sequence exon 3 of beta-catenin from 202 sporadic colorectal tumors. 10197610 1999
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE Our results indicate that somatic beta-catenin activating mutations contribute only to a minor part of human colorectal tumors and that germline beta-catenin mutations do not play a role in the variability of symptoms in FAP. 9591632 1998
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group LHGDN The APC/beta-catenin pathway in ulcerative colitis-related colorectal carcinomas: a mutational analysis. 11920497 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE Alterations of phosphorylation sites within the CTNNB1 gene, which codes for beta-catenin has been reported to occur in about one-half of colorectal tumors without APC-gene mutations. 11454429 2001
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE Aberrant activation of this signaling pathway is a key early event in the development of colorectal neoplasms, and is mainly caused by loss of function mutations in Adenomatous Polyposis Coli (APC), and less frequently by β-catenin stabilization mutations via missense or interstitial genomic deletions in CTNNB1. 30177831 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE We also provided evidence for an association between colorectal tumor risk and polymorphisms in laminin gamma 1 (this is the second gene in the laminin family to be associated with colorectal cancers), cyclin D2 (which encodes for cyclin D2), and T-box 3 (which encodes a T-box transcription factor and is a target of Wnt signaling to β-catenin). 23266556 2013
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE Frequent mutation of beta-catenin and APC genes in primary colorectal tumors from patients with hereditary nonpolyposis colorectal cancer. 10493496 1999
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE Some colorectal tumors with wild-type adenomatous polyposis coli gene have activating mutations in beta-catenin (encoded by CTNNB1) that result in decreased phosphorylation by GSK-3beta and increased signaling through the Tcf/Lef transcription factors. 10416591 1999
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE Aberrant activation of Wnt signaling caused by mutations in the tumor suppressor adenomatous polyposis coli or beta-catenin is a critical event in the development of human colorectal tumors. 12417602 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group CTD_human Fluorinated N,N-dialkylaminostilbenes for Wnt pathway inhibition and colon cancer repression. 21291235 2011
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE Previous studies have revealed that β‑catenin is associated with TRAIL resistance in melanoma and colorectal tumors. 30132512 2018
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE Therefore, beta-catenin might have an impact on the capacity of colorectal tumors for invasion and metastasis, as well as dormancy, which are hallmarks of cancer. 14973118 2004
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE OVOL2 is a colorectal tumor suppressor that blocks WNT signaling by facilitating the recruitment of histone deacetylase 1 to the TCF4-β-catenin complex. 26619963 2016
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE These results support (i) that vitamin D, alone or in combination with calcium, may modify APC, β-catenin, and E-cadherin expression in humans in directions hypothesized to reduce risk for colorectal neoplasms; (ii) vitamin D as a potential chemopreventive agent against colorectal neoplasms; and (iii) the potential of APC, β-catenin, and E-cadherin expression as treatable, pre-neoplastic risk biomarkers for colorectal neoplasms. 27254743 2017
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE The level of Dickkopf-4 was positively correlated with fibroblast growth factor-20 (r(s) = 0.61, P = 0.00017), a representative beta-catenin transcriptional target gene, and with the degree of nuclear accumulation of beta-catenin in colorectal tumors. 19659606 2009
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE VDR/RXR and TCF4/β-catenin cistromes in colonic cells of colorectal tumor origin: impact on c-FOS and c-MYC gene expression. 22108803 2012
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group LHGDN MUC1 and nuclear beta-catenin are coexpressed at the invasion front of colorectal carcinomas and are both correlated with tumor prognosis. 15102686 2004
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group CTD_human Resveratrol prevents tumorigenesis in mouse model of Kras activated sporadic colorectal cancer by suppressing oncogenic Kras expression. 25280562 2014
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE p16INK4a is a beta-catenin target gene and indicates low survival in human colorectal tumors. 18951899 2009
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE Human telomerase reverse transcriptase (hTERT) is a target gene of β-catenin in human colorectal tumors. 22894902 2012
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group LHGDN Beta-catenin expression in relation to genetic instability and prognosis in colorectal cancer. 17203186 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE Because beta-catenin is constitutively active in the majority of colorectal tumors, it is unlikely that sFRP1 can act in the canonical Wnt response pathway. 14871816 2004
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group CTD_human More frequent beta-catenin gene mutations in adenomas than in aberrant crypt foci or adenocarcinomas in the large intestines of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP)-treated rats. 10965019 2000