Article
Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma.
The Journal of clinical endocrinology and metabolism - 23 Jan 2021
Buffet Alexandre, Zhang Juan, Rebel Heggert, Corssmit Eleonora P M, Jansen Jeroen C, Hensen Erik F, Bovée Judith V M G, Morini Aurélien, Gimenez-Roqueplo Anne-Paule, Hes Frederik J, Devilee Peter, Favier Judith, Bayley Jean-Pierre
Abstract excerpt
CONTEXT: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors in which altered central metabolism appears to be a major driver of tumorigenesis, and many PPGL genes encode proteins involved in the tricarboxylic acid (TCA) cycle. OBJECTIVE/DESIGN: While about 40% of PPGL cases carry a variant in a known gene, many cases remain unexplained. In patients with unexplained PPGL showing clear evidence...
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