Article
Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.
Pathology oncology research : POR - 1 Oct 2016
Patócs Attila, Lendvai Nikoletta K, Butz Henriett, Liko Istvan, Sapi Zoltan, Szucs Nikolette, Toth Geza, Grolmusz Vince K, Igaz Peter, Toth Miklos, Rácz Károly
Abstract excerpt
Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare tumors, with heterogeneous genetic background. In up to 30 % of all, apparently sporadic Pheo/PGL cases germline mutations can be identified in one of the 15 genes representing genetic susceptibility for Pheo/PGL. Malignancy is rare but it frequently associates with SDHB mutations. Our aim was to determine the prevalence of germline SDHx, SDHAF2, MAX and...
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