1 Matching Annotations
  1. Apr 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The prevalence of germline DICER1 pathogenic variation in cancer populations
    1
    1. gl35090 25 Apr 2022
      The DICER1 syndrome is an autosomal dominant tumor‐predisposi-tion disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer

      GeneName:DICER1 PMID (PubMed ID): PMCID: PMC6418698 PMID: 30672147 HGNCID: NOT LISTED<br /> Inheritance Pattern: Autosomal Dominant Disease Entity: Cancer; benign and malignant tumors including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, Thryoid cancer, rhabdomyosarcoma, and pineoblastoma. Mutation: Somatic missense variation Mutation type: missense Zygosity: None stated Variant: unregistered…. Family Information: Characterize germline variants in familial early-onset clorectal cancer patients; The observation of germline DICER1 variation with uterine corpus endometrial carcinoma merits additional investigation. CasePresentingHPOs: uterine and rectal cancers in germline mutation

      Gene:DICER1 Inheritance pattern: Autosomal dominant PMID: 30672147 PMCID: PMC6418698 Disease Entity: Cancer; neoplasia Mutation: Missense Variant: Somatic missense variation Zygosity: Not stated Family Information: possible germline variant HGNCID: Not stated
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6418698/pdf/MGG3-7-na.pdf