Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma
Résumé
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 of a familial burden or multiple tumors, we aimed to identify causative factors using genetic analysis
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2020-Buffet-J Clin Endocrinol Metab.pdf (1.85 Mo)
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