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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 ; Neumann, Hartmut P. H.



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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