A novel <i>de novo</i> germ‐line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization

doi:10.1111/j.1365-2265.2009.03757.x

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Article

A novel <i>de novo</i> germ‐line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization

18 Dec 2009

Abstract excerpt

CONTEXT: In multiple endocrine neoplasia (MEN), rearranged during transfection (RET), gene testing has been extensively exploited to characterize tumour aggressiveness and optimize the diagnostic and clinical management. OBJECTIVE: To report the underlying genetic alterations in an unusual case of MEN type 2 (MEN-2A). DESIGN AND PATIENT: Occult medullary thyroid carcinoma (MTC) was diagnosed in a 44-year-old man...

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PMID: 20039896
DOI: 10.1111/j.1365-2265.2009.03757.x

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