- Apr 2022
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types
GeneName: DICER1 PMID (PubMed ID): 29762508 HGNCID: Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: cancer, rare genetic disorder, pleuroplumonary blastomas, cystic nephroma, rhabdomyosarcoma, multinodular goiter, thyroid cancer, overian Sertoli-Leydig cell tumors, and other meoplasias Mutations: Germline mutations or Somatic mutations Zygosity: Heterozygosity Variant: unregistered Family Information: Cystic nephromas has been reported in approximately 12% of children with pleuripulmonary blastomas or those with a family member with cystic nephroma. Patient with two DICER1 mutations and several of his family members shared these mutations. All members developed a least one type of tumor with differing origins. The patient was an 11-year old boy with a rare Hodgkin lymphoma with DICER1 in 2016. (c.5299delC and c.4616C>T).
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- Feb 2015
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en.wikipedia.org en.wikipedia.org
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SCID is the most severe form of primary immunodeficiencies,[4] and there are now at least nine different known genes in which mutations lead to a form of SCID.[5]
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