{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mellid S"],"funding":["Instituto de Salud Carlos III","Medical Research Council","Ministerio de Ciencia e Innovación"],"pagination":["1070074"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9905101"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13"],"pubmed_abstract":["<h4>Introduction</h4>The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of pathogenic allelic variants in different susceptibility genes.<h4>Methods</h4>Herein we uncover several cases with dual mutations in NF1 and other PPGL genes by targeted sequencing. We studied the molecular characteristics of the tumours with co-occurrent mutations, using omic tools to gain insight into the role of these events in tumour development.<h4>Results</h4>Amongst 23 patient"],"journal":["Frontiers in endocrinology"],"pubmed_title":["Co-occurrence of mutations in &lt;i&gt;NF1&lt;/i&gt; and other susceptibility genes in pheochromocytoma and paraganglioma."],"pmcid":["PMC9905101"],"funding_grant_id":["PI18/00454, PI20/01169","FPU19/04940","MR/W001101/1"],"pubmed_authors":["Maletta F","Cascon A","Richter S","Leton R","Bancos I","Fliedner SMJ","Galvez MA","Balbin M","Calatayud M","Rapizzi E","Gil E","Eisenhofer G","Honrado E","Bechmann N","Caleiras E","Herrera-Martinez AD","Robledo M","Korpershoek E","Canu L","Lider S","Lopez-Fernandez A","Matias-Guiu X","Lim ES","Palacios N","Mellid S","Lahera M","Galofre JC"],"additional_accession":[]},"is_claimable":false,"name":"Co-occurrence of mutations in &lt;i&gt;NF1&lt;/i&gt; and other susceptibility genes in pheochromocytoma and paraganglioma.","description":"<h4>Introduction</h4>The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of pathogenic allelic variants in different susceptibility genes.<h4>Methods</h4>Herein we uncover several cases with dual mutations in NF1 and other PPGL genes by targeted sequencing. We studied the molecular characteristics of the tumours with co-occurrent mutations, using omic tools to gain insight into the role of these events in tumour development.<h4>Results</h4>Amongst 23 patient","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-04-08T12:23:49.144Z","creation":"2025-04-04T08:35:20.012Z"},"accession":"S-EPMC9905101","cross_references":{"pubmed":["36760809"],"doi":["10.3389/fendo.2022.1070074"]}}