1 Matching Annotations
  1. Apr 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk
    1
    1. Frogqueen99 25 Apr 2022
      DICER1 syndrome is a cancer-predisposing disorder caused by pathogenic variants in the DICER1 gene

      Gene: DICER1 PMCID: PMC7859642 PMID: 33552988 HGNCID: Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: familial pleuropulmonary blastoma (PPB),cystic nephroma, ovarian Sertoli-Leydig cell tumor (SLCT), multinodular goiter, cervix embryonal rhabdomyosarcoma, Wilms’ tumor, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, and sarcomas of different sites. Mutation: Germline Zygosity: Heterozygosity most common Variant: ClinVarID not available Family Information: No mention of disease within family Case: No case specified GnomAD: N/A Mutation Type: Nonsense or Frameshift

      FamilialPleuropulmonaryBlastoma PPB SLCT Sarcomas Cancer PMCID: PMC7859642 Gene: DICER1 Germline Nonsense Frameshift CysticNephroma NasalChondromesenchymalHamartoma Pediatric CancerPredisposition PMID: 33552988 Heterozygosity HGNCID:Unavailable AutosomalDominant
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC7859642/