تقرير
[A family with a congenital DICER1 mutation].
| العنوان: | [A family with a congenital DICER1 mutation]. |
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| المؤلفون: | Altaraihi M; Anne-Marie.Gerdes@regionh.dk., Pedersen J, Rossing M, Gedes AM, Wadt K |
| المصدر: | Ugeskrift for laeger [Ugeskr Laeger] 2018 Jun 18; Vol. 180 (25). |
| نوع المنشور: | Case Reports |
| اللغة: | Danish |
| بيانات الدورية: | Publisher: Den Alm Danske Laegerforening Country of Publication: Denmark NLM ID: 0141730 Publication Model: Print Cited Medium: Internet ISSN: 1603-6824 (Electronic) Linking ISSN: 00415782 NLM ISO Abbreviation: Ugeskr Laeger Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Copenhagen : Den Alm Danske Laegerforening |
| مواضيع طبية MeSH: | DEAD-box RNA Helicases/*genetics , Goiter, Nodular/*genetics , Ovarian Neoplasms/*genetics , Ribonuclease III/*genetics , Sertoli-Leydig Cell Tumor/*genetics, Adult ; Child, Preschool ; Female ; Genetic Counseling ; Genetic Predisposition to Disease ; Goiter, Nodular/surgery ; Humans ; Infant ; Middle Aged ; Mutation ; Ovarian Neoplasms/surgery ; Sertoli-Leydig Cell Tumor/surgery |
| مستخلص: | Germ line DICER1 mutations predispose to a syndrome associated with increased risk of e.g. multinodular goitre (MNG), pleuropulmonary blastoma and Sertoli-Leydig cell tumour (SLCT). This is a case report about a family with a nonsense DICER1 mutation, c.988C>T, affecting six family members. The proband had once undergone a unilateral oophorectomy and a thyroidectomy due to SLCT and MNG, respectively. The proband has two children with the mutation but with no manifestations. Given this circumstance, we discuss the prospects of an implementation of screening programmes for children with predisposed cancerous syndromes. |
| 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) |
| تواريخ الأحداث: | Date Created: 20180626 Date Completed: 20190917 Latest Revision: 20190917 |
| رمز التحديث: | 20231215 |
| PMID: | 29938629 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1603-6824 |
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