Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913409
rs121913409
0.090 GeneticVariation BEFREE Primary sporadic DTFs harboring a CTNNB1 S45F mutation have a higher risk of recurrence after surgery compared to T41A, S45P, and WT DTF, but this association seems to be mediated by tumor size. 31804402

2019

dbSNP: rs121913409
rs121913409
0.090 GeneticVariation BEFREE This study examines whether the different CTNNB1 mutants (T41A, S45F) occurring in DTF tumors differentially affect Wnt signaling activity, which might explain the different disease course between DTF patients harboring different CTNNB1 mutations. 30528042

2019

dbSNP: rs121913409
rs121913409
0.090 GeneticVariation BEFREE Furthermore, the combination of hydroxychloroquine and sorafenib enhances the antiproliferative and proapoptotic effects in S45F-mutated DT cells, suggesting that profiling β-catenin status could guide clinical management of desmoid patients who are considering sorafenib treatment. 30980399

2019

dbSNP: rs121913409
rs121913409
0.090 GeneticVariation BEFREE The majority of desmoid tumors are related to T41A and S45F mutations of the beta-catenin encoding gene (CTNNB1). 29330550

2018

dbSNP: rs121913409
rs121913409
0.090 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

dbSNP: rs121913409
rs121913409
0.090 GeneticVariation BEFREE The specific S45F mutation has been reported to be associated with a more aggressive clinical course in DF. 26861905

2016

dbSNP: rs121913409
rs121913409
0.090 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

dbSNP: rs121913409
rs121913409
0.090 GeneticVariation BEFREE CTNNB1 S45F mutation predicts poor efficacy of meloxicam treatment for desmoid tumors: a pilot study. 24788118

2014

dbSNP: rs121913409
rs121913409
0.090 GeneticVariation BEFREE This series confirmed that primary, completely resected, sporadic DTs with the S45F mutation have a greater tendency for local recurrence. 23913621

2013

dbSNP: rs121913412
rs121913412
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

dbSNP: rs121913412
rs121913412
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

dbSNP: rs121913412
rs121913412
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

dbSNP: rs121913412
rs121913412
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

dbSNP: rs121913412
rs121913412
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

dbSNP: rs121913412
rs121913412
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

dbSNP: rs1171472831
rs1171472831
0.010 GeneticVariation BEFREE Three patients showed a CTNNB1 hotspot mutation (T41A, S45F, or S45N) in both the desmoid-type fibromatosis and the radiation-induced sarcoma. 26414222

2015