SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Disease: Secondary Neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.050 GeneticVariation group BEFREE Additional cytogenetic and genetic changes, however, including chromosome 3 monosomy, mutations in the BAP1 tumor suppressor gene, alterations in the splicing factors SRSF2/SF3B1, and mutations in the translation initiation factor EIF1AX, modulate signaling output in uveal tumors and modify the risk of metastases. 29738114 2018
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.050 Biomarker group BEFREE Next-generation sequencing technology identified somatic mutations in deleted in colorectal cancer (DCC), mixed lineage leukemia protein 3 (MLL3), and splicing factor 3B subunit 1 (SF3B1) genes in NMC cells from both primitive cancer and metastases. 28967088 2017
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.050 Biomarker group BEFREE The role of SF3B1 gene is unclear at this time but may be related to the development of late metastases among disomy 3 uveal melanoma. 28257297 2017
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.050 GeneticVariation group BEFREE Uveal Melanomas with SF3B1 Mutations: A Distinct Subclass Associated with Late-Onset Metastases. 26923342 2016
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.050 GeneticVariation group 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