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. 1995 Nov;32(11):885–886. doi: 10.1136/jmg.32.11.885

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

P A Crossey 1, C Eng 1, M Ginalska-Malinowska 1, T W Lennard 1, D C Wheeler 1, B A Ponder 1, E R Maher 1
PMCID: PMC1051741  PMID: 8592333

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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