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: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE An advanced invasive non-functioning adrenocortical carcinoma carried a somatic heterozygous BRAF V600E mutation, while 4 functioning and 4 non-functioning adenomas and 3 functioning carcinomas carried different CTNNB1 activating mutations. 19498322 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE CTNNB1 mutations were only found in two intestinal-type adenomas (4%). 23208952 2013
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Sequencing of genomic DNA extracted from a subset of hyperplastic polyps, SSAs, SSAs with dysplasia, TSAs and tubular adenomas failed to identify any CTNNB1 mutations to account for abnormal beta-catenin nuclear labeling. 19745699 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE In CTNNB1 exon 3, we detected a stabilizing mutation (S37A) in 3 out of 20 analyzed adenomas. 18541010 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE In addition to these specific pathways, the Wnt/β-catenin pathway appears to play an important role in adrenal tumorigenesis, because β-catenin mutations have been identified in both aldosterone- and cortisol-producing adenomas. 28973103 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE These suggest that alteration of other genes is primarily responsible for the nuclear translocation of beta-catenin in gastric adenomas. 12926124 2003
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We found that SHARP gene and protein expression is elevated in human colon and ovarian endometrioid adenocarcinomas and mouse colon adenomas and carcinomas carrying gene defects leading to beta-catenin dysregulation. 17234755 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Activating mutations in CTNNB1 in aldosterone producing adenomas. 26815163 2016
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Obese patients mainly develop inflammatory and β-catenin activated (highest risk for malignant transformation) adenomas. 27780309 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE In conclusion, the molecular and pathological classification of hepatocellular adenomas permits the identification of strong genotype-phenotype correlations and suggests that adenomas with beta-catenin activation have a higher risk of malignant transformation. 16496320 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE No mutations or deletions were seen in exon 3 of the beta-catenin gene for either the adenomas or the carcinoma. 18246041 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We report a case of a well-differentiated hepatocellular neoplasm with Dubin-Johnson-like pigment displaying histological features overlapping with a beta-catenin mutated inflammatory adenoma and a well-differentiated hepatocellular carcinoma in a non-cirrhotic liver. 26663015 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Four APAs showed a predominant (≥50%) zona fasciculata-like cell pattern: one tumor had CYP11B1 H-score = 150, no detectable CYP11B2 expression, and harbored a PRKACA p.Leu206Arg mutation (that we have reported previously elsewhere), one had no CYP11B1 expression, CYP11B2 H-score = 40, and no mutations; the remaining two adenomas had high CYP11B1 H-score (160 and 240, respectively) and low CYP11B2 H-score (30 and 15, respectively), with the latter harboring a CTNNB1 p.Ser45Phe activating mutation. 28405879 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Sequencing analyses identified APC or CTNNB1 mutations in the majority of sporadic adenomas (58/84, 69%) and MMR-proficient Lynch syndrome-associated adenomas (13/18, 72%). 28548127 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Somatic mutations of β-catenin and PRKACA are observed in non secreting or cortisol producing adenomas, respectively. 26038203 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE BRAF and beta-catenin mutations were detected in 3 and 8% of the 101 flat-type adenomas, respectively. 17143260 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE The frequent observation of constitutive activation of Wnt signaling due to loss-of-function mutations in the tumor suppressor gene APC or gain-of-function mutation in β-catenin in both adenomas and carcinomas, suggests perhaps that the Wnt pathway serves an early or initiating insult in the oncogenic process. 22266195 2012
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Activation of the Wnt pathway by conditionally deleting exon 3 of the beta-catenin gene at an early stage of enteroendocrine cell differentiation induced small-intestinal adenomas expressing serotonin, a feature not previously described in other tumors induced by Wnt in mice. 17592150 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Because alterations of the adenomatous polyposis coli (APC) gene are present in biliary tract cancers and the APC protein modulates levels of beta-catenin, we evaluated the role of beta-catenin in biliary tract cancer by sequencing the third exon of the beta-catenin gene among 107 biliary tract cancers and 7 gallbladder adenomas from a population-based study in CHINA: Point mutations of serine or threonine phosphorylation sites in exon 3 of beta-catenin were present in 8 of 107 (7.5%) biliary tract cancers and 4 of 7 (57.1%) gallbladder adenomas. 11309300 2001
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Together, this may suggest that two molecular pathways, intermediate methylation associated with KRAS mutations and LST-G morphology, and low methylation associated with CTNNB1 activation and LST-NG morphology, might be involved in LST development, and that involvement of TP53 mutations could be important in both subtypes in the development from adenoma to cancer. 24590867 2014
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE The results of the current study suggest that up-regulation of the Wnt signaling pathway, including accumulation of mutant CTNNB1 in the nuclei, plays an important role in the tumorigenesis and development of adenoma in the pituitary gland. 11148558 2001
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We report, for the first time, beta-catenin mutations in adenomas associated with PPNAD, further implicating Wnt-beta-catenin signalling in tumorigenesis linked to bilateral adrenal hyperplasias. 18419788 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We sequenced PRKACA, GNAS and CTNNB1 genes in 108 patients, including 60 patients with CPAs (57 with unilateral and three with bilateral adenomas), 13 with nonfunctional adenomas, 12 with adrenocortical carcinomas (ACCs), 15 with primary bilateral macronodular hyperplasia (PBMAH) and eight with aldosterone and cortisol cosecreting adenomas. 27296931 2016
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We searched for alterations in the APC mutation cluster region, the whole coding regions of TGF-beta type II receptor (RII) and beta-catenin exon 3 in 16 cases of cancer in adenomas of the colon. 9566701 1998
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Finally, integrative analysis of HCAs transformed to hepatocellular carcinoma revealed β-catenin mutation as an early alteration and TERT promoter mutations as associated with the last step of the adenoma-carcinoma transition. 24735922 2014