rs121913412, CTNNB1

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 GeneticVariation UNIPROT
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Hepatoblastoma
CUI: C0206624
Disease: Hepatoblastoma
0.700 CausalMutation CLINVAR
Desmoid Tumor Caused By Somatic Mutation
0.700 CausalMutation CLINVAR
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE Additional adjustment for tumor size yielded a P-value of 0.082 with hazard ratio's of 0.83 [95% confidence interval (CI) 0.48-1.42), 0.37 (95% CI 0.12-1.14), and 0.44 (95% CI 0.21-0.92) for T41A, S45P and WT DTF tumors compared to S45F DTF tumors. 31804402 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE Furthermore, analysis of beta-catenin gene revealed that the tumor had a typical missense mutation of threonine to alanine at colon 41 (T41A) in exon 3. 26907785 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE The tumor carried a heterozygous p.T41A mutation in CTNNB1. 27213811 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE Tumor DNA analysis revealed a heterozygous ACC-to-GCC missense mutation in codon 41 (T41A) and a TCT-to-CCT missense mutation in codon 45 (S45P) of exon 3 of the beta-catenin gene that was confirmed at the cDNA level. 18419788 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE Molecular analysis of microdissected cells from the left tumour revealed the same S45P CTNNB1 mutation in blastema, tubuli, stroma and muscle, and a different CTNNB1 mutation (T41A) in stromal cells isolated from another area of the same slide. 17551084 2007
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE Five carcinomas showed beta-catenin mutations (S37C, T41I, T41A), including 4 (33%) of 12 endometrioid-type tumors and 1 (14%) of 7 mucinous-type tumors. 10391090 1999
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.070 GeneticVariation BEFREE Heterozygous substitution mutations at codon 37 in two cases (S37F and S37C) and at codon 41 in one case (T41A) were found in three endometrioid lesions (one borderline tumor and two carcinomas) with abnormal beta-catenin expression. 9537226 1998
Fibromatosis, Aggressive
CUI: C0079218
Disease: Fibromatosis, Aggressive
0.060 GeneticVariation BEFREE No statistically significant difference in relative expression levels of Wnt target genes AXIN2, DKK1 and CCND1 was identified between either CTNNB1 wild-type, S45F or T41A mutated DTF samples. 30528042 2019
Fibromatosis, Aggressive
CUI: C0079218
Disease: Fibromatosis, Aggressive
0.060 GeneticVariation BEFREE Our findings suggest that the response to sorafenib differs when comparing S45F-mutated DTs and T41A-mutated or wild-type DTs. 30980399 2019
Fibromatosis, Aggressive
CUI: C0079218
Disease: Fibromatosis, Aggressive
0.060 GeneticVariation BEFREE The majority of desmoid tumors are related to T41A and S45F mutations of the beta-catenin encoding gene (CTNNB1). 29330550 2018
Fibromatosis, Aggressive
CUI: C0079218
Disease: Fibromatosis, Aggressive
0.060 GeneticVariation BEFREE We demonstrated that mutated DFs (T41A or S45F) and WT are two distinct molecular subgroups with regard to β-catenin stability, α-catenin affinity, and gene expression profiling. 28627792 2017
Fibromatosis, Aggressive
CUI: C0079218
Disease: Fibromatosis, Aggressive
0.060 GeneticVariation BEFREE Only 1 NMC had no detectable CTNNB1 mutation; however, the patient's subsequent NMC-fibromatosis had a CTNNB1 p.T41A mutation. 27259010 2016
Fibromatosis, Aggressive
CUI: C0079218
Disease: Fibromatosis, Aggressive
0.060 GeneticVariation BEFREE The other 3 patients showed a CTNNB1 mutation in the original desmoid-type fibromatosis (2 with a T41A and 1 with an S45F mutation), which was absent in the sarcoma. 26414222 2015
Fibromatosis
CUI: C0016048
Disease: Fibromatosis
0.020 GeneticVariation BEFREE Mutational analysis of exon 3 of the β-catenin gene (CTNNB1) revealed that mesenteric desmoids carried mutations significantly more often (51/56, 91.1%) than non-mesenteric tumours (20/28; 71.4%; P = 0.027). p.T41A occurred significantly more frequently in mesenteric fibromatoses (80.4%) than in abdominal wall and extra-abdominal fibromatoses (46.4%; P = 0.002). 23020601 2013