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Gene | SMARCB1 |
Variant | del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | SMARCB1 del indicates a deletion of the SMARCB1 gene, which leads to decreased levels of SWI/SNF subunits, decreased subunit incorporation into chromatin complexes (PMID: 27941797), and hyperactivation of EGFR and MET pathway signaling in cell culture (PMID: 23576573). SMARCB1 deletion has been frequently identified in epitheloid sarcoma (PMID: 23060122). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCB1 mutant SMARCB1 inact mut SMARCB1 del |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
SMARCB1 del | loss of function | CDK Inhibitor (Pan) CDK4/6 Inhibitor EZH2 inhibitor Fenretinide MRX34 |