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

Paola Concolino; Alessandra Costella; Ettore Domenico Capoluongo

doi:10.1016/j.cancergen.2015.12.002

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

Paola Concolino, Alessandra Costella, Ettore Domenico Capoluongo

Università Cattolica del Sacro Cuore

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61 Citations (Scopus)

Abstract

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 Caf Variome and HGMD (The Human Gene Mutation Database) databases respectively. A final careful analysis of MEN1 mutations affecting the coding region was performed.

Original language	English
Pages (from-to)	36-41
Number of pages	6
Journal	Cancer genetics
Volume	209
DOIs	https://doi.org/10.1016/j.cancergen.2015.12.002
Publication status	Published - 2016

Keywords

MEN1
molecular diagnosis

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10.1016/j.cancergen.2015.12.002

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

abstract = "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 Caf Variome and HGMD (The Human Gene Mutation Database) databases respectively. A final careful analysis of MEN1 mutations affecting the coding region was performed.",

keywords = "MEN1, molecular diagnosis, MEN1, molecular diagnosis",

author = "Paola Concolino and Alessandra Costella and Capoluongo, \{Ettore Domenico\}",

year = "2016",

doi = "10.1016/j.cancergen.2015.12.002",

language = "English",

volume = "209",

pages = "36--41",

journal = "Cancer genetics",

issn = "2210-7762",

publisher = "Elsevier Inc.",

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TY - JOUR

T1 - Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years

AU - Concolino, Paola

AU - Costella, Alessandra

AU - Capoluongo, Ettore Domenico

PY - 2016

Y1 - 2016

N2 - 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 Caf Variome and HGMD (The Human Gene Mutation Database) databases respectively. A final careful analysis of MEN1 mutations affecting the coding region was performed.

AB - 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 Caf Variome and HGMD (The Human Gene Mutation Database) databases respectively. A final careful analysis of MEN1 mutations affecting the coding region was performed.

KW - MEN1

KW - molecular diagnosis

KW - MEN1

KW - molecular diagnosis

UR - http://hdl.handle.net/10807/95638

U2 - 10.1016/j.cancergen.2015.12.002

DO - 10.1016/j.cancergen.2015.12.002

M3 - Article

SN - 2210-7762

VL - 209

SP - 36

EP - 41

JO - Cancer genetics

JF - Cancer genetics

ER -

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

Abstract

Keywords

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