Article
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.
Endocrine-related cancer - 1 Jun 2013
Toledo Rodrigo A, Qin Yuejuan, Srikantan Subramanya, Morales Nicole Paes, Li Qun, Deng Yilun, Kim Sang-Woo, Pereira Maria Adelaide A, Toledo Sergio P A, Su Xiaoping, Aguiar Ricardo C T, Dahia Patricia L M
Abstract excerpt
Pheochromocytomas and paragangliomas are highly vascular tumors of the autonomic nervous system. Germline mutations, including those in hypoxia-related genes, occur in one third of the cases, but somatic mutations are infrequent in these tumors. Using exome sequencing of six paired constitutive and tumor DNA from sporadic pheochromocytomas and paragangliomas, we identified a somatic mutation in the HIF2A (EPAS1)...
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