rs121913412, CTNNB1

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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