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

doi:10.1136/jmg.32.12.934

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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 1...

Topics

Drosophila Proteins
Genes, Tumor Suppressor
Humans
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2b
Mutation
Pheochromocytoma
Proto-Oncogene Mas
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases
von Hippel-Lindau Disease

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8825918-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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