PT  - JOURNAL ARTICLE
AU  - P A Crossey
AU  - C Eng
AU  - M Ginalska-Malinowska
AU  - T W Lennard
AU  - D C Wheeler
AU  - B A Ponder
AU  - E R Maher
TI  - Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
AID  - 10.1136/jmg.32.11.885
DP  - 1995 Nov 01
TA  - Journal of Medical Genetics
PG  - 885--886
VI  - 32
IP  - 11
4099  - http://jmg.bmj.com/content/32/11/885.short
4100  - http://jmg.bmj.com/content/32/11/885.full
SO  - J Med Genet1995 Nov 01; 32
AB  - 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.