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Article

The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies.

Orphanet journal of rare diseases - 1 Mar 2015

Colombo Carla, Minna Emanuela, Rizzetti Maria Grazia, Romeo Paola, Lecis Daniele, Persani Luca, Mondellini Piera, Pierotti Marco A, Greco Angela, Fugazzola Laura, Borrello Maria Grazia

Abstract excerpt

BACKGROUND: Hereditary medullary thyroid carcinoma (MTC) is caused by germ-line gain of function mutations in the RET proto-oncogene, and a phenotypic variability among carriers of the same mutation has been reported. We recently observed this phenomenon in a large familial MTC (FMTC) family carrying the RET-S891A mutation. Among genetic modifiers affecting RET-driven MTC, a role has been hypothesized for...

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Identifiers

PMID: 25887804
DOI: 10.1186/s13023-015-0231-z
PMCID: PMC4373282

Genes

RET

Variants

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Related research

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The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies.PMID 25887804Read ↗

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Clinical relevance of RET variants G691S, L769L, S836S and S904S to sporadic medullary thyroid cancerSemantic proximity Read ↗

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