Article
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
JAMA oncology - 1 Sept 2017
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 excerpt
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 with germline...
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