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A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma.

作者信息

Sponziello Marialuisa, Silvestri Gabriella, Verrienti Antonella, Perna Alessia, Rosignolo Francesca, Brunelli Chiara, Pecce Valeria, Rossi Esther Diana, Lombardi Celestino Pio, Durante Cosimo, Filetti Sebastiano, Fadda Guido

机构信息

Department of Internal Medicine and Medical Specialties, Sapienza University of Rome, Rome, Italy.

Institute of Neurology, Foundation "Agostino Gemelli" University Hospital, Rome, Italy.

出版信息

Endocrine. 2018 Nov;62(2):492-495. doi: 10.1007/s12020-018-1611-7. Epub 2018 Apr 26.

DOI:10.1007/s12020-018-1611-7
PMID:29700698
Abstract
摘要

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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.人类基因突变数据库：致力于打造一个全面的遗传性突变数据仓库，服务于医学研究、基因诊断及新一代测序研究。
Hum Genet. 2017 Jun;136(6):665-677. doi: 10.1007/s00439-017-1779-6. Epub 2017 Mar 27.
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Ultrasonography scoring systems can rule out malignancy in cytologically indeterminate thyroid nodules.
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J Otolaryngol Head Neck Surg. 2022 Nov 12;51(1):43. doi: 10.1186/s40463-022-00594-6.
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Diagnostics (Basel). 2020 Dec 29;11(1):43. doi: 10.3390/diagnostics11010043.
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Loss of Function SETD2 Mutations in Poorly Differentiated Metastases from Two Hürthle Cell Carcinomas of the Thyroid.两例甲状腺嗜酸性细胞癌低分化转移灶中功能缺失性SETD2突变
Cancers (Basel). 2020 Jul 14;12(7):1892. doi: 10.3390/cancers12071892.
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