دورية أكاديمية
أعرض في EDS

Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome.

التفاصيل البيبلوغرافية
العنوان: Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome.
المؤلفون: Garcia A; Department of Pathology & Immunology, Baylor College of Medicine, Department of Pathology, Texas Children's Hospital, Houston, TX USA., Desrosiers L; Texas Children's Cancer Center, Houston, TX USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX USA., Scollon S; Texas Children's Cancer Center, Houston, TX USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX USA., Gruner S; Texas Children's Cancer Center, Houston, TX USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX USA., Reuther J; Department of Pathology & Immunology, Baylor College of Medicine, Department of Pathology, Texas Children's Hospital, Houston, TX USA., Gandhi I; Department of Pathology & Immunology, Baylor College of Medicine, Department of Pathology, Texas Children's Hospital, Houston, TX USA., Patil N; Department of Pathology & Immunology, Baylor College of Medicine, Department of Pathology, Texas Children's Hospital, Houston, TX USA., Fuller MY; Department of Pathology & Immunology, Baylor College of Medicine, Department of Pathology, Texas Children's Hospital, Houston, TX USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA., Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX USA., Gibbs RA; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX USA., Bercaw-Pratt JL; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX USA., Rao SL; Texas Children's Cancer Center, Houston, TX USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX USA., Rainusso N; Texas Children's Cancer Center, Houston, TX USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX USA; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX USA., Fisher KE; Department of Pathology & Immunology, Baylor College of Medicine, Department of Pathology, Texas Children's Hospital, Houston, TX USA; Texas Children's Cancer Center, Houston, TX USA; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX USA., Lin FY; Texas Children's Cancer Center, Houston, TX USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX USA; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX USA., Plon SE; Texas Children's Cancer Center, Houston, TX USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX USA; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA., Parsons DW; Department of Pathology & Immunology, Baylor College of Medicine, Department of Pathology, Texas Children's Hospital, Houston, TX USA; Texas Children's Cancer Center, Houston, TX USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX USA; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX USA., Roy A; Department of Pathology & Immunology, Baylor College of Medicine, Department of Pathology, Texas Children's Hospital, Houston, TX USA; Texas Children's Cancer Center, Houston, TX USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX USA; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX USA. Electronic address: aroy@bcm.edu.
المصدر: Cancer genetics [Cancer Genet] 2022 Apr; Vol. 262-263, pp. 53-56. Date of Electronic Publication: 2022 Jan 05.
نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: New York, NY : Elsevier
مواضيع طبية MeSH: DEAD-box RNA Helicases*/genetics , Ovarian Neoplasms*/genetics , Ovarian Neoplasms*/pathology , Ribonuclease III*/genetics , Sertoli-Leydig Cell Tumor*/genetics , Sertoli-Leydig Cell Tumor*/pathology, Female ; Humans ; Mutation
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معلومات مُعتمدة: U01 HG006485 United States HG NHGRI NIH HHS
فهرسة مساهمة: Keywords: DICER1; Mosaic; Pathogenic; RNase IIIb; Sertoli-Leydig
المشرفين على المادة: EC 3.1.26.3 (DICER1 protein, human)
EC 3.1.26.3 (Ribonuclease III)
EC 3.6.4.13 (DEAD-box RNA Helicases)
SCR Disease Name: Androblastoma of ovary
تواريخ الأحداث: Date Created: 20220113 Date Completed: 20220425 Latest Revision: 20230402
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC8920771
DOI: 10.1016/j.cancergen.2022.01.001
PMID: 35026696
قاعدة البيانات: MEDLINE
الوصف
تدمد:2210-7762
DOI:10.1016/j.cancergen.2022.01.001