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: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease BEFREE Overall, while chronic administration of the model CAR activator NaPB results in both hepatocellular adenoma and carcinoma in the low spontaneous liver tumour incidence C57BL/10 J mouse strain, only 40% of the liver tumours evaluated in this study had β-catenin mutations. 31836555 2020
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease BEFREE Meanwhile, β-catenin mutated hepatocellular adenoma patients with malignant transformation were predominantly male (67%, p = 0.018) with single lesion (86%, p = 0.0009). 31570768 2019
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 Biomarker disease BEFREE All six hepatocellular adenomas with malignancy were β-catenin activated; β-catenin activation could serve as a biomarker for malignant progression. 31698521 2019
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 Biomarker disease BEFREE The mutational status of the <i>CTNNB1</i> gene was determined in ß-catenin-activated HCA (b-HCA) and HCC with at least moderate nuclear CTNNB1 accumulation. 30901310 2019
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 Biomarker disease BEFREE HCA were classified as inflammatory (n = 6), steatotic (n = 4), or β-catenin activated (n = 1) subtypes. 30052636 2018
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease BEFREE Focal β-catenin mutation identified on formalin-fixed and paraffin-embedded inflammatory hepatocellular adenomas. 28618047 2017
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 Biomarker disease BEFREE Liver fatty acid-binding protein, serum amyloid A, C-reactive protein, prostaglandin D2 synthetase, GS, and β-catenin can be used either on biopsy or surgical specimen to classify hepatocellular adenoma into hepatocyte nuclear factor (HNF-1α) inactivated (steatotic), inflammatory, with dysregulation of sonic hedgehog and prostaglandin pathways, β-catenin mutated, and unclassified. 28280721 2017
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 AlteredExpression disease BEFREE The expression in HA was variable and differed between molecular subtypes of this neoplasm: inflammatory and HNF1A mutation-associated type are characterized by overexpression of c-MET to an extent comparable with poorly-differentiated HCC, whereas Wnt/β-catenin dysfunction-associated type lacks overexpression, and the amount of c-MET protein accumulated in its cells is similar to the levels in non-neoplastic tissue and well- to moderately-differentiated HCC. 29256857 2017
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 AlteredExpression disease BEFREE HAs presented as a heterogeneous group, with loss of PTEN observed in the inflammatory and HNF1A-mutated subtype and relatively intact PTEN expression in HA with nuclear β-catenin overexpression. 29687774 2017
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 Biomarker disease BEFREE Specific molecular subgroup of HCA with β-catenin and sonic hedgehog activation associated with malignant transformation and bleeding, respectively. 27939373 2017
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 AlteredExpression disease BEFREE This single entity has been split into 3 subtypes corresponding to specific mutations: HNF1α-inactivated HCA; inflammatory HCA related to different mutations, all leading to activation of STAT3 pathway; and β-catenin-activated HCA related to CTNNB1 mutations. 28506364 2017
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease BEFREE CTNNB1 mutated HCA in exon 3 and sonic hedgehog HCA have been linked with a high risk of malignant transformation and bleeding respectively. 28733222 2017
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease BEFREE In HCA, CTNNB1 mutations predispose to transformation of HCA in HCC and TERT promoter mutations are required in most of the cases as a second hit for a full malignant transformation. 26336998 2016
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease BEFREE The results show a modest correlation between diffuse glutamine synthetase immunostaining and exon 3 β-catenin mutations in hepatocellular adenoma and hepatocellular carcinoma with discrepancy rates >50% in both hepatocellular adenoma and hepatocellular carcinoma. 27469330 2016
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease BEFREE All 36 sequenced HCAs showed HNF1α mutations (72% missense, 28% synonymous), 2 hotspot polymorphisms of HNF1α (I27L: rs1169288 and S487N: rs2464196) were seen in 17 (47%) and 10 (27.8%) cases, respectively, and a novel single nucleotide polymorphism site (rs1169304) in intron 9 of HNF1α was detected in 32 (88%) cases, but no β-catenin or gp130 gene mutation was detected, and no nuclear β-catenin staining was detected by immunohistochemistry. 26608415 2015
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 AlteredExpression disease BEFREE Hepatocellular adenomas (HCAs) are heterogeneous group of benign tumors; three pathomolecular subtypes have been identified so far: hepatocyte nuclear factor 1 α-inactivated HCA (H-HCA) (35-40%), inflammatory HCA (I-HCA) (>50%), β-catenin activated HCA (10%). 25260568 2015
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 AlteredExpression disease BEFREE Genotype-phenotype classification of the pigmented tumors showed different subtypes: HNF1α inactivated (48%), β-catenin activated (26%), inflammatory (15%), concurrently β-catenin activated and inflammatory in 1 hepatocellular adenoma, concurrently HNF-1α inactivated and β-catenin activated in 1 hepatocellular adenoma, and unclassified in 1 hepatocellular carcinoma. 26205181 2015
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 Biomarker disease BEFREE β-catenin activating HCA has increased activity of the Wnt/β-catenin pathway and is associated with possible malignant transformation. 25195525 2015
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 Biomarker disease BEFREE In conclusion, the hepatocellular adenoma-like portion of most cases of hepatocellular carcinoma arising in hepatocellular adenoma shows features typically seen in hepatocellular carcinoma such as focal morphological abnormalities, β-catenin activation, heat-shock protein 70 expression, and chromosomal gains. 24743216 2014
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease BEFREE We also observed higher ALDH3A1 expression in CTNNB1-mutated HCA when compared with other subtypes. 24276407 2014
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease BEFREE We report a case of a peliotic adenoma that was morphologically consistent with a β-catenin wild-type hepatocellular adenoma but harbored a β-catenin mutation by molecular analysis. 24997695 2014
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease 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
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 Biomarker disease BEFREE Hepatocellular adenomas (HCA) are benign liver tumors mainly related to oral contraception and classified into 4 molecular subgroups: inflammatory (IHCA), HNF1A-inactivated (H-HCA), β-catenin-activated (bHCA) or unclassified (UHCA). 23046672 2013
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 Biomarker disease BEFREE Atypical hepatocellular adenoma-like neoplasms with β-catenin activation show cytogenetic alterations similar to well-differentiated hepatocellular carcinomas. 23084586 2013
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 Biomarker disease CTD_human Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice. 21147764 2011