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  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
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    1. tmh90524 29 Apr 2022
      DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1 gene.

      Gene Name: DICER1 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: Nonsense, Frameshift<br /> Zygosity: Heterosygosity Variant:No ClinVar ID present Family Information:no diseases mentioned in family Case: no specified case in this article gnomAD: n/a Mutation type: Nonsense. frameshift

      Gene: DICER1 PMID:33552988 Inheritance Pattern: Autosomal Dominant familial pleuropulmonary blastoma PPB cystic nephroma SLCT ovarian Sertoli-Leydig cell tumor multinodular goiter cervix embryonal rhabdomyosarcoma Wilms’ tumor nasal chondromesenchymal hamartoma ciliary body medulloepithelioma differentiated thyroid carcinoma pituitary blastoma pineoblastoma sarcomas Mutation: Frameshift Mutation: Nonsense Zygosity: Heterosygosity
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    ncbi.nlm.nih.gov/pmc/articles/PMC7859642/