Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 AlteredExpression group BEFREE SNF2L siRNA inhibition using two different siRNAs separately reduced SNF2L transcript levels and protein in both normal and cancer lines, but only the cancer lines showed significant growth inhibition, DNA damage, a DNA damage response, and phosphorylation of checkpoint proteins and marked apoptosis. 19996304 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Inactivating mutations in SWI/SNF chromatin remodeling genes in human cancer. 23904343 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 AlteredExpression group BEFREE SWI/SNF enzyme subunits are mutated or missing in many cancer types, but are overexpressed without apparent mutation in other cancers. 25808524 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 AlteredExpression group BEFREE Collectively, these data suggest that loss of BAF155 expression represents another mechanism for inactivation of SWI/SNF complex activity in the development in human cancer. 22139574 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Here, we review SWI/SNF biochemistry; highlight recent genomic and proteomic advances; and address the role of SWI/SNF in human diseases, including cancer and viral infections. 22952240 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE To study the actin-related complex of human SWI/SNF and the cancer-associated mutations interfering Arp assembly with the ATPase subunit, we modelled the structure of the β-actin-BAF53A-HSA complex based on the yeast Arp-HSA complex (PDB ID: 4I6M). 30286321 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE SWI/SNF complexes are mutated across many cancer types. 30025943 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Components of the SWI/SNF chromatin remodeling complex, including BRG1 (also SMARCA4), are inactivated in cancer. 27593925 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE However, the mechanism by which SNF5 mutation leads to cancer and the role of SNF5 within the SWI/SNF complex remain largely unknown. 19789351 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE The mutation of ARID1A that encodes the subunit of the SWI/SNF complex represents the most likely driver of the tumor's malignant potential. 27756662 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Various components of chromatin remodeling complexes, including several members of the SWI/SNF family, have been shown to be disrupted in cancer. 11904375 2002
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Mutations in subunits of the PBAF (polybromo/Brg1-associated factor) or SWI/SNF-B remodelling complex, including BAF180, are frequently associated with cancer. 22435813 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Here, we review the roles of the SWI/SNF (switch/sucrose nonfermenting) and NuRD (nucleosome remodeling and deacetylase) and the Polycomb system in chromatin regulation and cancer. 31123059 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE More recently, at least seven other genes encoding SWI/SNF subunits have been identified as recurrently mutated in cancer. 24853101 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Kinetic studies using physiologically relevant heterotypic nucleosomal substrates ('Janus' nucleosomes) indicate that these cancer-associated mutations can disrupt regularly spaced chromatin structure by inducing ISWI-mediated unidirectional nucleosome sliding. 31819269 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Accumulating genetic and biochemical evidences support a role for the SWI/SNF chromatin-remodeling complex in cancer development and multiple core subunits of these complexes have been found to function as tumor suppressor genes. 16538531 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE In addition, there is evidence indicating that ARID1A-mutated cancer may also be subjected to therapeutic intervention by targeting residual SWI/SNF activity, the PI3K/AKT pathway, the DNA damage response, the tumor immunological microenvironment and stabilizing wild-type p53. 26125128 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Vulnerabilities of mutant SWI/SNF complexes in cancer. 25203320 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Several SWI/SNF genes are disrupted in cancer, suggesting their possible role as tumor suppressors. 18034322 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE ARID1A, a subunit of the SWI/SNF chromatin remodeling complex, is frequently mutated in cancer. 28967863 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Here, we performed a computational meta-analysis using gene expression, prognosis, and clinicopathological data to clarify the role of SMARCA4 and the alternative SWI/SNF ATPase SMARCA2 (BRM) in cancer. 29391527 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE The mechanisms by which perturbation of the SWI/SNF complexes promote oncogenesis are not fully elucidated; however, alterations of SWI/SNF genes obviously play a major part in cancer development, progression, and/or resistance to therapy. 25387058 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Our rapidly growing knowledge about cancer genetics attests to the widespread occurrence of alterations at genes encoding different components of the SWI/SNF complex. 23752187 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Mammalian SWI/SNF complexes in cancer: emerging therapeutic opportunities. 28391084 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE This would also facilitate further studies to characterize cancer causing mutations in SWI/SNF subunits. 28961249 2017