Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
    
      
        GeneName: DICER1
      
    
      
        PMID (PubMed ID): 33846547
      
    
      
        Inheritance Pattern: Non- inheritance(DNA methylation)
      
    
      
        Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
      
    
      
        Mutation: c5113G>A
      
    
      
        Mutation: c.4420A>G
      
    
      
        Mutation: c.5428G>T
      
    
      
        Mutation: c.5125G > A
      
    
      
        Mutation: c.4267G>T
      
    
      
        Mutation: c.3580delA
      
    
      
        Mutation: 5428 G>C
      
    
      
        Mutation: c.5438 A> C
      
    
      
        Zygosity: Some Cases displayed homozygosity
      
    
      
        Variant: Clinvar ID not identified
      
    
      
        Family Information: not identified
      
    
      
        case mut: f 28-67
      
    
      
        case wt: m&f 0.5-19
      
    
      
        pathogenicity: only 2 of 17 patients died from disease