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Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

Neumann, Hartmut P.H. ; Erlic, Zoran ; Boedeker, Carsten C. ; Rybicki, Lisa A. ; Robledo, Mercedes ; Hermsen, Mario ; Schiavi, Francesca ; Falcioni, Maurizio ; Kwok, Pingling ; Bauters, Catherine ; Lampe, Karen ; Fischer, Markus ; Edelman, Emily ; Benn, Diana E. ; Robinson, Bruce G. ; Wiegand, Stefanie ; Rasp, Gerd ; Stuck, Boris A. ; Hoffmann, Michael M. ; Sullivan, Maren ; Sevilla, Maria A. ; Weiss, Marjan M. ; Peczkowska, Mariola ; Kubaszek, Agata ; Pigny, Pascal ; Ward, Robyn L. ; Learoyd, Diana ; Croxson, Michael ; Zabolotny, Dmitry ; Yaremchuk, Svetlana ; Draf, Wolfgang ; Muresan, Mihaela ; Lorenz, Robert R. ; Knipping, Stephan ; Strohm, Michael ; Dyckhoff, Gerhard ; Matthias, Christoph ; Reisch, Nicole ; Preuss, Simon F. ; Eβer, Dirk ; Walter, Martin A. ; Kaftan, Holger ; Stöver, Timo ; Fottner, Christian ; Gorgulla, Harald ; Malekpour, Mahdi ; Zarandy, Masoud Motasaddi ; Schipper, Jörg ; Brase, Christoph ; Glien, Alexander ; Kühnemund, Matthias ; Koscielny, Sven ; Schwerdtfeger, Peter ; Välimäki, Matti ; Szyfter, Witold ; Finckh, Ulrich ; Zerres, Klaus ; Cascon, Alberto ; Opocher, Giuseppe ; Ridder, Gerd J. ; Januszewicz, Andrzej ; Suarez, Carlos ; Eng, Charis



Abstract

Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies in diagnostic processes are important in the setting of multiple susceptibility genes for a single disease. Head and neck paraganglioma (HNP) is caused by germline mutations of at least three succinate dehydrogenase subunit genes (SDHx). ...

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