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Article

Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.

Journal of medical genetics - 1 Dec 1995

Eng C, Crossey P A, Mulligan L M, Healey C S, Houghton C, Prowse A, Chew S L, Dahia P L, O'Riordan J L, Toledo S P

Abstract excerpt

Phaeochromocytomas may occur sporadically, or as part of the inherited cancer syndromes multiple endocrine neoplasia (MEN) type 2, von Hippel-Lindau disease (VHL), and, rarely, in type 1 neurofibromatosis. In MEN 2, germline missense mutations have been found in one of eight codons within exons 10, 11, 13, 14, and 16 of the RET proto-oncogene. In VHL, germline mutations within one of the three exons are...

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Identifiers

PMID: 8825918
DOI: 10.1136/jmg.32.12.934
PMCID: PMC1051771

Genes

VHL
RET

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.PMID 8825918Read ↗

Mutations in the RET protooncogene in sporadic pheochromocytomas.Semantic proximity Read ↗

Differential Genetic Alterations in von Hippel-Lindau Syndrome-Associated and Sporadic Pheochromocytomas1Semantic proximity Read ↗

Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.Semantic proximity Read ↗

Tumor-specific mutations in the tyrosine kinase domain of the RET proto-oncogene in pheochromocytomas of sporadic type.Semantic proximity Read ↗

Sporadic Pheochromocytomas Are Rarely Associated with Germline Mutations in the<i>vhl</i>Tumor Suppressor Gene or the<i>ret</i>Protooncogene<sup>1</sup>Semantic proximity Read ↗

Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas.Semantic proximity Read ↗

Genetic alterations of the RET proto-oncogene in familial and sporadic pheochromocytomas.Semantic proximity Read ↗

Von Hippel-Lindau gene alterations in sporadic benign and malignant pheochromocytomas.Semantic proximity Read ↗

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.Semantic proximity Read ↗

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.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 ↗

Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC:s.Semantic proximity Read ↗

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