Article
SDH mutations establish a hypermethylator phenotype in paraganglioma.
Cancer cell - 10 Jun 2013
Letouzé Eric, Martinelli Cosimo, Loriot Céline, Burnichon Nelly, Abermil Nasséra, Ottolenghi Chris, Janin Maxime, Menara Mélanie, Nguyen An Thach, Benit Paule, Buffet Alexandre, Marcaillou Charles, Bertherat Jérôme, Amar Laurence, Rustin Pierre, De Reyniès Aurélien, Gimenez-Roqueplo Anne-Paule, Favier Judith
Abstract excerpt
Paragangliomas are neuroendocrine tumors frequently associated with mutations in RET, NF1, VHL, and succinate dehydrogenase (SDHx) genes. Methylome analysis of a large paraganglioma cohort identified three stable clusters, associated with distinct clinical features and mutational status. SDHx-related tumors displayed a hypermethylator phenotype, associated with downregulation of key genes involved in...
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