rs121913412, CTNNB1

N. diseases: 19
Disease: Fibromatosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Fibromatosis
CUI: C0016048
Disease: Fibromatosis
0.020 GeneticVariation BEFREE Mutations in exon 3 of CTNNB1 were detected by direct DNA sequencing in nine (75.0%) cases: all were c.121G>A (p.T41A), which was much more frequent in breast fibromatoses than in other soft tissue lesions. 22211293 2012