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  1. May 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gynecologic and Reproductive Health in Patients with Pathogenic Germline Variants in DICER1
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    1. cvela 02 May 2022
      Individuals who harbor germline pathogenic variants in DICER1 (MIM #601200) have an increased risk for a variety of benign and malignant tumors.

      Gene name: DICER1 PMID: 31952842 HGNCID: none found Inheritance pattern: autosomal dominant Disease entity: cervical embryonal rhabdomyosarcoma and ovarian sex-cord stromal tumors Mutation: Germline Zygosity: heterozygous Variant: none found Family info: personal or family history of ovarian sex-cord stromal tumor Case: 64 females aged 2 to 72 years; non-Hispanic white families CasePresentingHPOs: benign/malignant tumors CasePreviousTesting: physical examination, hormone testing, pelvic ultrasound gnomAD: N/A mutation type: germline pathogenic variation

      DICER1 autosomaldominant cervicalembryonalrhabdomyosarcoma ovariansex-cordstromaltumors germline heterozygous personal/familyhistory non-hispanicwhitefamilies
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    ncbi.nlm.nih.gov/pmc/articles/PMC7462333/