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Article

Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?

Clinical endocrinology - 1 Dec 2011

Machens Andreas, Spitschak Alf, Lorenz Kerstin, Pützer Brigitte M, Dralle Henning

Abstract excerpt

OBJECTIVE: Rearranged during transfection (RET) gene analysis, widely used to identify carriers at risk of medullary thyroid cancer (MTC), occasionally uncovers novel sequence 'variants of unknown clinical significance' including RET I852M. This study aimed to clarify whether RET I852M represents a harmless polymorphism or a pathogenic mutation. DESIGN: Clinical investigation supported by functional...

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Identifiers

PMID: 21711375
DOI: 10.1111/j.1365-2265.2011.04158.x

Genes

RET

Variants

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