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

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Article

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

JAMA - 20 Nov 1996

Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel R F, van Amstel H K, Lips C J, Nishisho I, Takai S I, Marsh D J, Robinson B G, Frank-Raue K, Raue F, Xue F, Noll W W, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjöld M, Komminoth P, Hendy G N, Mulligan L M

Abstract excerpt

OBJECTIVE: Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder. The 3 recognized subtypes include MEN 2A, characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (pheo), and hyperparathyroidism (HPT); MEN 2B, by MTC, pheo, and characteristic stigmata; and fa...

Topics

Carcinoma, Medullary
Codon
Cysteine
Drosophila Proteins
Hirschsprung Disease
Humans
Hyperparathyroidism
Multiple Endocrine Neoplasia Type 2a
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pheochromocytoma

Proto-Oncogene Mas

Proto-Oncogene Proteins

Proto-Oncogene Proteins c-ret

Receptor Protein-Tyrosine Kinases

Thyroid Neoplasms

Source

Open in PubMed

Identifiers

PMID: 8918855

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8918855-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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