3 Matching Annotations
- Apr 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Individuals who harbor germline pathogenic variants in DICER1 (MIM #601200) have an increased risk for a variety of benign and malignant tumors.
GENENAME: DICER1 PMID: 31952842 HGNCID: NONE DISEASE ENTITY: THYROID DISEASE AND OVARIAN TUMORS ZYGOSITY: HETEROZYGOUS VARIANT: NONE CASE PRESENTING HPOS: cervical embryonal rhabdomyosarcoma CASE PREVIOUS TESTING: GYNECOLOGIC HISTORY MUTATION: DELETION
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Of 64 females aged 2–72 years, fifteen underwent treatment for pleuropulmonary blastoma as children and three were treated for cervical embryonal rhabdomyosarcoma.
CASE: FEMALES AGED 2-72 YEARS
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- May 2014