3 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
    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
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    ncbi.nlm.nih.gov/pmc/articles/PMC6418698/
  3. 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
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    ncbi.nlm.nih.gov/pmc/articles/PMC7859642/