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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 found in 97% of patients with MEN 2A and 86% with FMTC but not in MEN 2B patients or normal controls. 84% of the MEN2A...

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Identifiers

PMID: 7907913
DOI: 10.1038/ng0194-70

Genes

RET

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

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Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.PMID 7907913Read ↗

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Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group.Semantic proximity Read ↗

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.Semantic proximity Read ↗

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTCSemantic proximity Read ↗

The Relationship Between Specific RET Proto-oncogene Mutations and Disease Phenotype in Multiple Endocrine Neoplasia Type 2Semantic proximity Read ↗

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