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 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 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 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 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 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 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 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 GeneticVariation disease BEFREE Analysis of 96 hepatocellular adenomas performed by a French collaborative network showed that they can be divided into four broad subgroups: the first one is defined by the presence of mutations in TCF1 gene inactivating the hepatocyte nuclear factor 1 (HNF1 alpha); the second by the presence of beta-catenin activating mutations; the category without mutations of HNF1 alpha or beta-catenin is further divided into 2 subgroups depending on the presence or absence of inflammation. 17569132 2007
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 GeneticVariation disease BEFREE Finally, in a few MODY3 patients with HNF1A germline mutation leading to amino acid substitutions outside the POU-H domain, we identified a different subtype of HCA either with a gp130 and/or CTNNB1 activating mutation. 20393147 2010
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 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 CTD_human Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice. 21147764 2011
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 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 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 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: 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 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 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 Our report may be the first to describe the beta-catenin abnormalities in childhood liver cell adenoma. 12203220 2002
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 Polymerase chain reaction (PCR) amplification and direct sequencing of all samples of HA and FNH displayed no mutations in exon 3 of the beta-catenin gene. 12297840 2002
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 AlteredExpression disease BEFREE Previously described associations were confirmed and in particular the significant association between beta-catenin-activated HCA and hepatocellular carcinomas (HCC) at diagnosis or during follow-up (P < 10(-5)). 17663417 2007
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma
0.400 GeneticVariation disease BEFREE Recently, inactivating mutations of hepatocyte nuclear factor-1alpha (HNF-1alpha) transcription factor gene or activating mutations of beta-catenin have been demonstrated in some liver adenomas, and a possible link between HNF-1alpha gene mutations and oral contraceptives has been suggested. 17535860 2007