New mutations related to hereditary neuroendocrine tumors

(Centro Nacional de Investigaciones Oncol ó gicas (CNIO)) The presence of a germline mutation in the GOT2 gene found in a patient with metastasis gives rise to increased activity of the encoder enzyme. Furthermore, the authors describe extraordinarily rare mutations in two patients: one in the SDHC gene and another in the IDH1. Finally, by way of an extension study focused on more than 60 patients with these neuroendocrine tumors, a new susceptibility gene, IDH3B, associated with the development of paragangliomas was identified. (Source: EurekAlert! - Cancer)

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