3 Matching Annotations
  1. Apr 2022
  2. 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
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4398601/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The prevalence of germline DICER1 pathogenic variation in cancer populations
    2
    1. lcg75545 29 Apr 2022
      The DICER1 syndrome

      Gene: DICER1 PMID: 30672147 HGNCID: n/a Inheritance Pattern: autosomal dominant Disease Entity: Pleuropulmonary Blastoma, Cystic Nephroma, Sertoli-Leydig tumors, Multinodular goiter, thyroid cancer, rhabdomysarcoma, pineoblastoma Mutation: Germline Zygosity: n/a MultipleGeneVariants Variant: p.Gly1824Val, p.Ser1160Tyr, p.Ala1578Thr, p.Leu1469Pro, p.Ser1160Tyr, p.Ile528Thr, p.Pro1836Leu, p.Glu904*, p.Tyr1835Ser, p.Ile528Thr, p.Arg1342His, p.Phe1650Cys, p.Trp1481Arg, p.Arg201His, p.Asp1390His, p.Trp1397Arg, p.Ala1578Thr <br /> Family Info: n/a gnomAD: n/a

      Gene:DICER1 PMID:30672147 AutosomalDominant PleuropulmonaryBlastoma CysticNephroma Sertoli-LeydigTumors MultinodularGoiter ThyroidCancer Rhabdomysarcoma Pineoblastoma Germline MultipleGeneVariants PMCID:PMC6418698
    2. cmayo 27 Apr 2022
      The DICER1 syndrome is an autosomal dominant tumor‐predisposition disorder

      Gene: DICER1 PMID: 30672147 HGNCID: Not found Inheritance Pattern: autosomal dominant Disease Entity: Pleuropulmonary Blastoma, Cystic Nephroma, Sertoli-Leydig tumors, Multinodular goiter, thyroid cancer, rhabdomysarcoma, pineoblastoma Mutation: germline Zygosity: not stated Variant: p.Asp1810Asn, c.4206+1G>C [splice],p.Gly1824Val, p.Ser1160Tyr, p.Ala1578Thr, p.Leu1469Pro, p.Ser1160Tyr, p.Ile528Thr, p.Pro1836Leu, p.Glu904, p.Tyr1835Ser, p.Ile528Thr, p.Arg1342His, p.Phe1650Cys, p.Trp1481Arg, p.Arg201His, p.Asp1390His, p.Asp1810Asn c.4206+1G>C, p.Trp1397Arg, p.Ala1578Thr Family Info: none provided

      Gene:DICER1 PMID:30672147 AutosomalDominant PleuropulmonaryBlastoma CysticNephroma Sertoli-LeydigTumors MultinodularGoiter ThyroidCancer Rhabdomysarcoma Pineoblastoma GermlineMutation MultipleVariants
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6418698/