SSX2, SSX family member 2, 6757

N. diseases: 87; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 GeneticVariation disease BEFREE Apart from the canonical SS18-SSX fusion, this is only the second alternative gene fusion variant described in synovial sarcoma to date, in addition to two cases harboring the SS18L1-SSX1 fusion. 31595587 2020
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 AlteredExpression disease BEFREE The diagnosis of primary renal synovial sarcoma requires histopathology and the confirmation of SYT-SSX gene fusion using molecular techniques. 31367627 2019
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE Interestingly, three SS18 fusion genes (SS18-SSX2B, SS18-SSX2, and SS18-SSX4) were identified in a synovial sarcoma case. 31232935 2019
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE However, to date there have been no effective strategies targeting SS18-SSX for the treatment of synovial sarcomas. 30488489 2019
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 GeneticVariation disease BEFREE Synovial sarcomas (SS) are rare soft tissue tumours defined by the SYT-SSX fusion gene. 31161693 2019
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 AlteredExpression disease BEFREE Meta-analyses showed that the test of detecting MDM2 amplification by fluorescence in situ hybridization was accurate in differentiating atypical lipomatous tumor/well-differentiated liposarcoma/dedifferentiated liposarcoma from benign tumors (N = 971; sensitivity = 95%, 95% confidence interval [CI] 89-98; specificity = 100%, CI 89-100) or from other STS (N = 347; sensitivity = 99%, CI 72-100; specificity = 90%, CI 78-95); that the test of detecting SS18-SSX fusion by reverse transcription polymerase chain reaction (PCR) was accurate in differentiating synovial sarcoma from other STS (N = 532; sensitivity = 93%, CI 85-96; specificity = 99%, CI 96-100). 29709714 2018
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE Isobaric tags for relative and absolute quantitation (i-TRAQ) analyses identified approximate 1700-2,000 proteins regulated by the SS18/SSX fusion in each SS cell line. 30680066 2018
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 AlteredExpression disease BEFREE Additionally, we showed that SS can originate from periosteal cells expressing SS18-SSX alone and from preosteoblasts expressing the fusion oncogene accompanied by the added stabilization of β-catenin, which is a common secondary change in SS. 29202462 2018
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE Immunoreactivity of a Monoclonal Antibody to SS18-SSX Fusion Gene Product in Formalin-fixed Paraffin-embedded Synovial Sarcoma Tissue Section. 27362474 2018
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 AlteredExpression disease BEFREE This review summarises our current understanding of the function of SS18-SSX and the mechanisms by which it alters the epigenetic landscape of permissive cells to induce transformation and the subsequent development of synovial sarcoma. 30506527 2018
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE The SS18-SSX Oncoprotein Hijacks KDM2B-PRC1.1 to Drive Synovial Sarcoma. 29502955 2018
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE We demonstrate that BRD9 supports oncogenic mechanisms underlying the SS18-SSX fusion in synovial sarcoma and highlight targeted degradation of BRD9 as a potential therapeutic opportunity in this disease. 30431433 2018
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE Epigenetic ConFUSION: SS18-SSX Fusion Rewires BAF Complex to Activate Bivalent Genes in Synovial Sarcoma. 29894696 2018
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE Here we demonstrate that SS18-SSX globally hijacks BAF complexes on chromatin to activate an SS transcriptional signature that we define using primary tumors and cell lines. 29861296 2018
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE Fusion gene SYT-SSX may play a critical role in the molecular pathological of SS. 28498445 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE Based on our results, neither histological grading nor SYT-SSX fusion status seems to be suitable for outcome prediction and risk stratification in localized SS treated according to the CWS. 27621063 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE The SS18-SSX chimeric gene is unique to synovial sarcoma. 29025595 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 AlteredExpression disease BEFREE Synovial sarcoma (SS) is an aggressive soft-tissue malignancy characterized by expression of SS18-SSX fusions, where treatment options are limited. 29038346 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE Synovial sarcoma (SS) is initiated by a t(X;18) chromosomal translocation and resultant SS18-SSX fusion oncogene.Only a few SS cell lines exist. 28409421 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 AlteredExpression disease BEFREE The aim of this study was to verify whether histological (grading and histology) and molecular (type of SSX translocation and INI1 expression) characteristics of SS influence the prognosis of the disease. 28579008 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 GeneticVariation disease BEFREE Synovial sarcoma is associated with a unique translocation, resulting in an SYT-SSX fusion gene. 27697479 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 AlteredExpression disease BEFREE Here, we show that SS18/SSX tightly regulates the elevated expression of the key Wnt target AXIN2 in primary SS. 26905812 2016
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 AlteredExpression disease BEFREE Three cases (1.5%) revealed the SYT-SSX transcript for Synovial sarcoma, and one (0.5%) a EWSR1-WT1 transcript for Desmoplastic Small Round Cell tumor. 27180056 2016
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE In the present study, we examined the effects of the cellular context on the function of the synovial sarcoma (SS)-specific fusion protein, SS18-SSX, using human pluripotent stem cells (hPSCs) containing the drug-inducible SS18-SSX gene. 26571495 2015
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.700 Biomarker disease BEFREE Proteomic studies have identified an integral role of SS18-SSX in the SWI/SNF complex, and provide new evidence for mistargeting of polycomb repression in synovial sarcoma. 25614489 2015