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Article

The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.

Endocrine pathology - 1 Mar 2017

Grey William, Hulse Rosaline, Yakovleva Anna, Genkova Dilyana, Whitelaw Benjamin, Solomon Ellen, Diaz-Cano Salvador J, Izatt Louise

Abstract excerpt

The REarranged during Transfection (RET) proto-oncogene is a receptor tyrosine kinase involved in growth and differentiation during embryogenesis and maintenance of the urogenital and nervous systems in mammals. Distinct mutations across hotspot RET exons can cause Multiple Endocrine Neoplasia Type 2A (MEN2A) characterised by development of medullary thyroid cancer (MTC), phaeochromocytoma (PCC) and primary...

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PMID: 27704398
DOI: 10.1007/s12022-016-9451-6

Genes

RET

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.PMID 27704398Read ↗

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Multiple Endocrine Neoplasia Type 2 (MEN2) and RET Specific Modifications of the ACMG/AMP Variant Classification Guidelines and Impact on the MEN2 RET DatabaseSemantic proximity Read ↗

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GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review.Semantic proximity Read ↗

RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.Semantic proximity Read ↗

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