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  1. May 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1
    1
    1. egerek 03 May 2022
      DICER1 syndrome is an autosomal-dominant, familial pleiotropic tumor-predisposition disorder1 caused by pathogenic germline variants in DICER1, an essential component of the microRNA processing pathway.

      GeneName: DICER1 PMID: 30715996 HGNCID: N/A Inherritence pattern: autosomal dominant Disease Entity: multiple gene variants mutation: germline Zygosity: N/A Variant: Not found Family Info: N/A

      multiplegenevariants Gene:DICER1 Germline PMID: 30715996 AutosomalDominant miRNA SomaticLoss-of-functionMutation IncompletePentrence MissenseMutation DicerAssociatedNeoplasms NeoplasmRisk MalignancyRisk DICER1Carriers pathogenic
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    ncbi.nlm.nih.gov/pmc/articles/PMC6553836/
  3. Apr 2022
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cell- and Developmental Stage-Specific Dicer1 Ablation in the Lung Epithelium Models Cystic Pleuropulmonary Blastoma
    1
    1. ErinPurzycki 30 Apr 2022
      We previously identified germline loss-of-function DICER1 mutations in a human syndrome defined by the childhood lung neoplasm, pleuropulmonary blastoma (PPB), which arises during lung development.

      GeneName: DICER1 PMCID: PMC4398601, PMID: 25500911 HGNCID: not avaliable InheritancePattern: autosomal dominant DiseaseEthnicity: Pleuropulmonary blastoma Mutation: germline Zygosity: heterozygotes most common Variant: ClinVarID unavaliable FamilyInformation: family disease not mentioned gnomAD: not avaliable MutationType: missense

      Germline PMCID: PMC4398601 PMID: 25500911 Gene:DICER1 AutosomalDominant PleuropulmonaryBlastoma MissenseMutation Heterozygotes
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    ncbi.nlm.nih.gov/pmc/articles/PMC4398601/