High Frequency ofSDHBGermline Mutations in Patients with Malignant Catecholamine-Producing Paragangliomas: Implications for Genetic Testing | Zendy

Frederieke M. Brouwers | Zendy; Graeme Eisenhofer | Zendy; Jessica J. Tao | Zendy; Jeffrey A. Kant | Zendy; Karen T. Adams | Zendy; W. Marston Linehan | Zendy; Karel Pacák | Zendy

Open Access

High Frequency ofSDHBGermline Mutations in Patients with Malignant Catecholamine-Producing Paragangliomas: Implications for Genetic Testing

Author(s) -

Frederieke M. Brouwers,

Graeme Eisenhofer,

Jessica J. Tao,

Jeffrey A. Kant,

Karen T. Adams,

W. Marston Linehan,

Karel Pacák

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-0423

Subject(s) - sdhb , paraganglioma , germline mutation , medicine , frameshift mutation , missense mutation , malignancy , context (archaeology) , cancer research , germline , pathology , biology , mutation , genetics , gene , paleontology

Adrenal and extraadrenal paragangliomas are tumors of chromaffin cells that are usually benign but that may also develop into malignant disease. Mutations of the gene for succinate dehydrogenase subunit B (SDHB) are associated with a high risk of malignancy, but establishing the precise contribution requires relatively large numbers of patients with well-defined malignancy.

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