SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Disease: melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		0.100 AlteredExpression disease BEFREE In contrast, SF3B1 and KIT have higher mutation rate in mucosal melanoma as compared to cutaneous melanoma. 31655118 2020
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE Recurrent SF3B1 p.R625 hotspot mutations were exclusively detected in vulvovaginal (5 of 19: 26%) and anorectal melanomas (3 of 5:60%). 30847022 2019
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE SF3B1 mutations occur more commonly in female genital and anorectal melanomas and CTNNB1 mutations implicate a role for WNT signaling defects in the genesis of some mucosal melanomas. 31320640 2019
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE This is the first report of SF3B1 R625 mutations in vulvovaginal mucosal melanoma, with the largest whole-exome sequencing project of mucosal melanomas to date. 28296713 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE Our findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue nevus-like melanoma from conventional epidermal-derived melanomas. 28409567 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE Furthermore, we identify SF3B1 mutations as a recurrent genetic event in mucosal melanomas. 27739435 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.100 Biomarker disease BEFREE Significantly mutated genes included BRAF, CDKN2A, NRAS and TP53 in cutaneous melanoma, BRAF, NRAS and NF1 in acral melanoma and SF3B1 in mucosal melanoma. 28467829 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE Hotspot mutations in the spliceosome gene SF3B1 are reported in ∼20% of uveal melanomas. 26842708 2016
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE Uveal Melanomas with SF3B1 Mutations: A Distinct Subclass Associated with Late-Onset Metastases. 26923342 2016
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE Our finding that an SF3B1 or EIF1AX mutation is present in a substantial subset of primary LMNs underscores that these tumors genetically resemble uveal melanoma and are different from cutaneous melanoma at the genetic level. 26769193 2016
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE Rare SF3B1 R625 mutations in cutaneous melanoma. 24709888 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE Resequencing of ten uveal melanomas with disomy 3 that developed metastases identified SF3B1 mutations in three tumors, none of which targeted Arg625. 23793026 2013
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE Lack of SF3B1 R625 mutations in cutaneous melanoma. 23694694 2013