2018
DOI: 10.1530/eje-18-0430
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Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing

Abstract: Background Loss-of-function germline MEN1 gene mutations account for 75–95% of patients with multiple endocrine neoplasia type 1 (MEN1). It has been postulated that mutations in non-coding regions of MEN1 might occur in some of the remaining patients; however, this hypothesis has not yet been fully investigated. Objective To sequence for the entire MEN1 including promoter, exons and introns in a large MEN1 cohort and determine the mutation profile. Methods and patients A target next-generation sequencing (… Show more

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Cited by 19 publications
(27 citation statements)
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References 76 publications
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“…Of our own nine reoperated cases, three had residual neck parathyroids glands, two had graft dependent recurrences, two underwent cryopreserved parathyroid autografts; one had a supernumerary parathyroid gland; and one was operated on due to HPT persistence after a STPTX. An irrefutable pathogenic germline variant was identified in MEN1 gene in 71 of these cases operated between 2011 and 2018 by Sanger sequencing or multiplex ligation-dependent probe amplification (1, 2, 4, 10, 17, 19).…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…Of our own nine reoperated cases, three had residual neck parathyroids glands, two had graft dependent recurrences, two underwent cryopreserved parathyroid autografts; one had a supernumerary parathyroid gland; and one was operated on due to HPT persistence after a STPTX. An irrefutable pathogenic germline variant was identified in MEN1 gene in 71 of these cases operated between 2011 and 2018 by Sanger sequencing or multiplex ligation-dependent probe amplification (1, 2, 4, 10, 17, 19).…”
Section: Resultsmentioning
confidence: 99%
“…In the present investigation, a retrospective analysis of patients submitted to PTX from 2011 onwards was performed. These patients are part of a MEN1 clinical and genetic screening program that has been performed since 1996 in our Service (1, 2, 4, 1719).…”
Section: Methodsmentioning
confidence: 99%
“…The splice site mutation c.654 + 1G > T harbored by our case was first reported by Teh et al (50). Of note, we have previously reported a sporadic MEN1 case (51, 52) and more recently other nine apparently unrelated familial MEN1 cases harboring this mutation (53). Due to its very low frequency, the MEN1 c.654 + 1G > T mutation is not included within the nine “warm spot” MEN1 variants (54).…”
Section: Discussionmentioning
confidence: 80%
“…Among them, 94 patients (58.4%) were operated on between 2011 and 2018 including seven out of nine patients younger than 21 y (Montenegro et al). These findings might suggest a tendency to a recent increase in the number of HPT/MEN1 adolescents submitted to PTX and they are most probably due to more accessible genetic testing and active periodic vigilance of MEN1 carriers, contrasting with previous periods (20)(21)(22). Furthermore, based on four adolescent HPT/MEN1 cases that underwent unintentional less than SPTX, Montenegro et al debated on the potential risks and benefits of less extensive PTX procedures applied to the specific subset of young HPT/MEN1 patients presenting a documented localized disease.…”
Section: Editorial On the Research Topic Early Genetic And Clinical Dmentioning
confidence: 98%