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Article

A Homozygous RET K666N Genotype With an MEN2A Phenotype.

The Journal of clinical endocrinology and metabolism - 1 Apr 2018

Jaber Tania, Hyde Samuel M, Cote Gilbert J, Grubbs Elizabeth G, Giles Wesley H, Stevens Cathy A, Dadu Ramona

Abstract excerpt

Context: Germline RET K666N mutation has been described as a pathogenic mutation with low disease penetrance for medullary thyroid cancer (MTC) without other features of multiple endocrine neoplasia type 2A. We describe a patient with homozygous RET K666N mutation with MTC and bilateral pheochromocytoma (PHEO). Case Description: A 59-year-old woman received a diagnosis of MTC after biopsy of two thyroid nodules....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29408964
DOI: 10.1210/jc.2017-02402

Genes

RET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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