Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.

doi:10.1038/ng0194-70

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Article

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.

Nature genetics - 1 Jan 1994

Mulligan L M, Eng C, Healey C S, Clayton D, Kwok J B, Gardner E, Ponder M A, Frilling A, Jackson C E, Lehnert H

Abstract excerpt

We have analysed 118 families with inherited medullary thyroid carcinoma (MTC) for mutations of the RET proto-oncogene. These included cases of multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial MTC (FMTC). Mutations at one of 5 cysteines in the extracellular domain were...

Topics

Base Sequence
Carcinoma, Medullary
DNA Mutational Analysis
DNA Primers
Drosophila Proteins
Exons
Humans
Molecular Sequence Data
Multiple Endocrine Neoplasia
Phenotype
Point Mutation
Proto-Oncogene Mas
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret
Proto-Oncogenes

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Open in PubMed

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PMID: 7907913
DOI: 10.1038/ng0194-70

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7907913-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Receptor Protein-Tyrosine Kinases

Thyroid Neoplasms