Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years

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• 作者：Paola Concolino ; ^{paolaconcolino78@libero.it" class="auth_mail" title="E-mail the corresponding author} ; Alessandra Costella ; Ettore Capoluongo
• 关键词：MEN1 ; cancer ; mutations ; molecular diagnosis ; variants
• 刊名：Cancer Genetics
• 出版年：2016
• 出版时间：January-February 2016
• 年：2016
• 卷：209
• 期：1-2
• 页码：36-41
• 全文大小：549 K

文摘

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.