Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database

Endocrine
Francesca MariniMaria Luisa Brandi

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is caused by germline inactivating mutations of the MEN1 gene. Currently, no direct genotype-phenotype correlation is identified. We aim to analyze MEN1 mutation site and features, and possible correlations between the mutation type and/or the affected menin functional domain and clinical presentation in patients from the Italian multicenter MEN1 database, one of the largest worldwide MEN1 mutation series published to date. The study included the analysis of MEN1 mutation profile in 410 MEN1 patients [370 familial cases from 123 different pedigrees (48 still asymptomatic at the time of this study) and 40 single cases]. We identified 99 different mutations: 41 frameshift [small intra-exon deletions (28) or insertions (13)], 13 nonsense, 26 missense and 11 splicing site mutations, 4 in-frame small deletions, and 4 intragenic large deletions spanning more than one exon. One family had two different inactivating MEN1 mutations on the same allele. Gastro-entero-pancreatic tumors resulted more frequent in patients with a nonsense mutation, and thoracic neuroendocrine tumors in individuals bearing a splicing-site mutation. Our data regarding mutation type frequency and distribution are in acc...Continue Reading

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Citations

Oct 17, 2018·European Journal of Endocrinology·Rafael A CarvalhoDelmar M Lourenço
Nov 16, 2018·Orphanet Journal of Rare Diseases·Francesca MariniMaria Luisa Brandi
Sep 18, 2020·Cancers·Devi D NelakurtiRuben C Petreaca
May 3, 2019·Endocrine·Annamária KövesdiVince Kornél Grolmusz
Dec 15, 2020·Frontiers in Endocrinology·Chiara MelePaolo Marzullo
Nov 30, 2020·Endocrine Reviews·Maria Luisa BrandiRajesh V Thakker

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