Article
The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.
Clinical genetics - 1 Jan 2018
Rijken J A, Niemeijer N D, Jonker M A, Eijkelenkamp K, Jansen J C, van Berkel A, Timmers H J L M, Kunst H P M, Bisschop P H L T, Kerstens M N, Dreijerink K M A, van Dooren M F, van der Horst-Schrivers A N A, Hes F J, Leemans C R, Corssmit E P M, Hensen E F
Abstract excerpt
Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical genetics centers of the Netherlands, we have calculated the penetrance of SDHB associated tumors...
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