Concolino Paola, Costella Alessandra, Capoluongo Ettore
Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.
Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.
Cancer Genet. 2016 Jan-Feb;209(1-2):36-41. doi: 10.1016/j.cancergen.2015.12.002. Epub 2015 Dec 14.
This review will focus on the germline MEN1 mutations that have been reported in patients with MEN1 and other hereditary endocrine disorders from 2007 to September 2015. A comprehensive review regarding the analysis of 1336 MEN1 mutations reported in the first decade following the gene's identification was performed by Lemos and Thakker in 2008. No other similar papers are available in literature apart from these data. We also checked for the list of Locus-Specific DataBases (LSDBs) and we found five MEN1 free-online mutational databases. 151 articles from the NCBI PubMed literature database were read and evaluated and a total of 75 MEN1 variants were found. On the contrary, 67, 22 and 44 novel MEN1 variants were obtained from ClinVar, MEN1 at Café Variome and HGMD (The Human Gene Mutation Database) databases respectively. A final careful analysis of MEN1 mutations affecting the coding region was performed.
本综述将聚焦于2007年至2015年9月期间在多发性内分泌腺瘤1型（MEN1）患者及其他遗传性内分泌疾病患者中报道的胚系MEN1突变。2008年，Lemos和Thakker对该基因鉴定后的头十年里报道的1336个MEN1突变分析进行了全面综述。除这些数据外，文献中没有其他类似的论文。我们还检查了基因座特异性数据库（LSDBs）列表，发现了五个免费在线的MEN1突变数据库。阅读并评估了来自NCBI PubMed文献数据库的151篇文章，共发现75个MEN1变体。相反，分别从ClinVar、Café Variome的MEN1和HGMD（人类基因突变数据库）数据库中获得了67个、22个和44个新的MEN1变体。对影响编码区的MEN1突变进行了最终的仔细分析。
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