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Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

Bausch, Birke, Schiavi, Francesca, Ni, Ying, Welander, Jenny, Patocs, Attila, Ngeow, Joanne, Wellner, Ulrich, Malinoc, Angelica, Taschin, Elisa, Barbon, Giovanni, Lanza, Virginia, Söderkvist, Peter, Stenman, Adam , Larsson, Catharina, Svahn, Fredrika, Chen, Jin-Lian, Marquard, Jessica, Fraenkel, Merav, Walter, Martin A. , Peczkowska, Mariola, Prejbisz, Aleksander , Jarzab, Barbara , Hasse-Lazar, Kornelia , Petersenn, Stephan, Moeller, Lars C. , Meyer, Almuth, Reisch, Nicole, Trupka, Arnold, Brase, Christoph, Galiano, Matthias, Preuss, Simon F., Kwok, Pingling, Lendvai, Nikoletta, Berisha, Gani, Makay, Özer, Boedeker, Carsten C., Weryha, Georges, Racz, Karoly, Januszewicz, Andrzej, Walz, Martin K., Gimm, Oliver, Opocher, Giuseppe , Eng, Charis and Neumann, Hartmut P. H. (2017) Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. JAMA Oncology 3 (9), p. 1204.

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Other URL: http://doi.org/10.1001/jamaoncol.2017.0223


Abstract

IMPORTANCE Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients ...

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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Hals-Nasen-Ohren-Heilkunde
Identification Number:
ValueType
10.1001/jamaoncol.2017.0223DOI
Keywords:NECK PARAGANGLIOMA; GERMLINE MUTATIONS; PITUITARY-ADENOMA; LARGE COHORT; HEREDITARY; ASSOCIATION; PENETRANCE; PREVALENCE; VARIANTS; SPECTRUM;
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:39205
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