Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma

Inherited predisposition to phaeochromocytoma is seen in multiple endocrine neoplasia type 2 syndromes, von Hippel-Lindau (VHL) disease, and neuro-fibromatosis type 1. In addition familial phaeochromocytoma alone has been reported. To investigate the genetic basis for familial phaeochromocytoma alon...

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Bibliographic Details
Published in:Journal of medical genetics 1995-11, Vol.32 (11), p.885-886
Main Authors: Crossey, P A, Eng, C, Ginalska-Malinowska, M, Lennard, T W, Wheeler, D C, Ponder, B A, Maher, E R
Format: Article
Language:English
Subjects:
Adolescent
Adrenal Gland Neoplasms - genetics
Adult
Child
Diagnosis
DNA Mutational Analysis
Drosophila Proteins
Female
Genes, Tumor Suppressor
Genetic screening
Humans
Ligases
Male
Multiple endocrine neoplasia
Mutation
Neoplasms, Multiple Primary - genetics
Neoplastic Syndromes, Hereditary - diagnosis
Neoplastic Syndromes, Hereditary - genetics
Pedigree
Pheochromocytoma
Pheochromocytoma - genetics
Point Mutation
Proteins - genetics
Proto-Oncogene Proteins - genetics
Proto-Oncogene Proteins c-ret
Proto-Oncogenes
Receptor Protein-Tyrosine Kinases - genetics
Research Article
Ret protein
Tumor suppressor genes
Tumor Suppressor Proteins
Ubiquitin-Protein Ligases
VHL protein
Von Hippel-Lindau disease
von Hippel-Lindau Disease - diagnosis
von Hippel-Lindau Disease - genetics
Von Hippel-Lindau Tumor Suppressor Protein
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Summary:Inherited predisposition to phaeochromocytoma is seen in multiple endocrine neoplasia type 2 syndromes, von Hippel-Lindau (VHL) disease, and neuro-fibromatosis type 1. In addition familial phaeochromocytoma alone has been reported. To investigate the genetic basis for familial phaeochromocytoma alone, we screened three affected kindreds for mutations in the RET proto-oncogene and the VHL tumour suppressor gene. We did not detect MEN 2 associated RET mutations in any family, but missense VHL gene mutations (V155L and R238W) were identified in two kindreds with no clinical evidence of VHL disease. Patients with familial, multiple, or early onset phaeochromocytoma should be investigated for germline VHL and RET gene mutations as the molecular diagnosis of multisystem familial cancer syndromes enables appropriate counselling and screening to be provided.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.32.11.885