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Article

Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.

Proceedings of the National Academy of Sciences of the United States of America - 15 Feb 1994

Carlson K M, Dou S, Chi D, Scavarda N, Toshima K, Jackson C E, Wells S A, Goodfellow P J, Donis-Keller H

Abstract excerpt

Multiple endocrine neoplasia type 2B (MEN 2B) is a human cancer syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytomas, mucosal neuromas, ganglioneuromas of the intestinal tract, and skeletal and ophthalmic abnormalities. It appears both as an inherited disorder and as de novo disease. Sequence analysis of germ-line DNA from MEN 2B patients revealed the existence of the same point mutation...

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Identifiers

PMID: 7906417
DOI: 10.1073/pnas.91.4.1579
PMCID: PMC43203

Genes

RET

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.PMID 7906417Read ↗

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RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma.Semantic proximity Read ↗

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Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.Semantic proximity Read ↗

Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.Semantic proximity Read ↗

Multiple endocrine neoplasia type 2B--genetic basis and clinical expression.Semantic proximity Read ↗

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