{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T23:29:04Z","timestamp":1791156544489,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,11]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.32.11.885","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"885-886","source":"Crossref","is-referenced-by-count":69,"title":["Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma."],"prefix":"10.1136","volume":"32","author":[{"given":"P A","family":"Crossey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Eng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Ginalska-Malinowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T W","family":"Lennard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D C","family":"Wheeler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B A","family":"Ponder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E R","family":"Maher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1995,11,1]]},"reference":[{"key":"ref_1","first-page":"75","article-title":"Familial risk for neuroendocrine tumours","volume":"5","author":"Anderson, R.J.; Lynch, H.T.","year":"1993","unstructured":"Anderson RJ, Lynch HT. Familial risk for neuroendocrine tumours. Curr Opin Oncol 1993;5:75-84.","journal-title":"Curr Opin Oncol"},{"key":"ref_2","article-title":"A practical guide to human cancer genetics","author":"Hodgson, S.V.; Maher, E.R.","year":"1994","unstructured":"Hodgson SV, Maher ER. A practical guide to human cancer genetics. Cambridge: Cambridge University Press, 1994."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1093\/qjmed\/77.2.1151","article-title":"Clinical features and natural history ofvon Hippel-Lindau disease","volume":"77","author":"Maher, E.R.; Yates, J.R.W.; Harries, R.; Benjamin, C.; Harris, R.; Ferguson-Smith, M.A.","year":"1990","unstructured":"Maher ER, Yates JRW, Harries R, Benjamin C, Harris R, Ferguson-Smith MA. Clinical features and natural history ofvon Hippel-Lindau disease. 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Point mutation within the tyrosine kinase domain of the RET protooncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Molec Genet 1994;3:23741.","journal-title":"Hum Molec Genet"},{"key":"ref_8","first-page":"509","article-title":"A novel point mutation in the tyrosine kinase domain of the RET protooncogene in sporadic medullary thyroid carcinoma and in a family with FMTC","volume":"10","author":"Eng, C.; Smith, D.P.; Mulligan, L.M.","year":"1995","unstructured":"Eng C, Smith DP, Mulligan LM, et al. A novel point mutation in the tyrosine kinase domain of the RET protooncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene 1995;10:509-13.","journal-title":"Oncogene"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1126\/science.8493574","article-title":"Identification of the von Hippel-Lindau disease tumour suppressor gene","volume":"260","author":"Latif, F.; Tory, K.; Gnarra, J.","year":"1993","unstructured":"Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumour suppressor gene. Science 1993;260:1317-20.","journal-title":"Science"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1093\/hmg\/3.8.1303","article-title":"Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype","volume":"3","author":"Crossey, P.A.; Richards, F.M.; Foster, K.","year":"1994","unstructured":"Crossey PA, Richards FM, Foster K, et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Molec Genet 1994;3:1303-8.","journal-title":"Hum Molec Genet"},{"key":"ref_11","first-page":"491","article-title":"A polymorphic dinucleotide repeat at the Dl OS 141 locus","volume":"2","author":"Love, D.R.; Gardner, E.; Ponder, B.A.J.","year":"1993","unstructured":"Love DR, Gardner E, Ponder BAJ. A polymorphic dinucleotide repeat at the Dl OS 141 locus. Hum Molec Genet 1993;2:491.","journal-title":"Hum Molec Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1093\/hmg\/2.3.279","article-title":"Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation ofthe VHL locus","volume":"2","author":"Crossey, P.A.; Maher, E.R.; Jones, M.H.","year":"1993","unstructured":"Crossey PA, Maher ER, Jones MH, et al. Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation ofthe VHL locus. Hum Molec Genet 1993;2:279-82.","journal-title":"Hum Molec Genet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/BF00223868","article-title":"von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect","volume":"95","author":"Brauch, H.; Kishida, T.; Glavac, D.","year":"1995","unstructured":"Brauch H, Kishida T, Glavac D, et al. von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. 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