Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913409
rs121913409
CTNNB1
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
CTNNB1
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
CTNNB1
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
CTNNB1
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
CTNNB1
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
CTNNB1
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
CTNNB1
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
CTNNB1
0.090 GeneticVariation BEFREE CTNNB1 S45F mutation predicts poor efficacy of meloxicam treatment for desmoid tumors: a pilot study. 24788118

2014
dbSNP: rs121913409
rs121913409
CTNNB1
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