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  1. May 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. Brandyfri 03 May 2022
      DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1

      GeneName: DICER1 PMCID: PMC7859642 HGNCID: Unavailable Inheritance Pattern: Autosomal dominant. Disease Entity: Familial pleuropulmonary blastoma (PPB), cervix embryonal rhabdomyosarcoma, multinodular goiter, nasal chondromesenchymal hemartoma, Ciliary body medulloepithelioma, Sertoli-Leydig Cell Tumor (SLCT), differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, cystic nephroma, Wilm's tumor and sarcomas of different sites including, amongst others, the uterine cervix, kidney and brain. Mutation: Germline Zygosity: Heterozygose Variant: No ClinVarID present. Family Information: No family outline Case: No specified information of patients included. CasePresentingHPO's: n/a CasePrevious Testing: n/a gnomAD: n/a Mutation Type: nonsense, frameshift, or splice affected.

      Gene: DICER1 PMCID: PMC7859642 Inheritance Pattern: Autosomal dominant Familial pleuropulmonary blastoma (PPB) Cervix embryonal rhabdomyosarcoma Multinodular goiter Nasal chondromesenchymal hemartoma Ciliary body medulloepitheliomma Sertoli-Letdig Cell Tumor(SLCT) Differentiated thyroid carcinoma Wilm's tumor Mutation: Germline Zygosity: Heterozygous Mutation type: Nonsense Mutation type: Frameshift
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    ncbi.nlm.nih.gov/pmc/articles/PMC7859642/