Source:http://linkedlifedata.com/resource/pubmed/id/17264095
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
Pt 3
|
| pubmed:dateCreated |
2007-3-9
|
| pubmed:abstractText |
Haemangioblastomas of the CNS are a cardinal feature of von Hippel-Lindau (VHL) disease, a dominantly inherited multisystem familial cancer syndrome caused by germline mutation of the VHL tumour suppressor gene. We investigated the frequency of VHL mutations in 188 patients presenting with a single haemangioblastoma, no family history of VHL disease and no evidence of retinal or abdominal manifestations of the disease at the time of diagnosis. We found that approximately 4% of patients had a detectable VHL mutation and all of these cases presented age 40 years or less. Although the identification of a germline VHL mutation has important consequences for the patient (e.g. risk of further CNS and extra-CNS tumours) and their relatives, four patients had germline VHL missense mutations [C162Y, D179N and R200W (two patients)] that may represent haemangioblastoma-only and/or low penetrance mutations. Approximately 5% of patients without a detectable VHL mutation subsequently developed a further 'VHL type tumour' (in most cases a further CNS haemangioblastoma). These findings suggest that a subset of patients with apparently sporadic CNS haemangioblastoma will have a germline VHL mutation but may not be at risk for developing classical VHL disease and a further group may be mosaic for a germline VHL mutation that cannot be detected in blood cells.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
1460-2156
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
130
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
836-42
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| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:17264095-Adolescent,
pubmed-meshheading:17264095-Adult,
pubmed-meshheading:17264095-Aged,
pubmed-meshheading:17264095-Central Nervous System Neoplasms,
pubmed-meshheading:17264095-Child,
pubmed-meshheading:17264095-Cohort Studies,
pubmed-meshheading:17264095-DNA, Neoplasm,
pubmed-meshheading:17264095-DNA Mutational Analysis,
pubmed-meshheading:17264095-Family Health,
pubmed-meshheading:17264095-Female,
pubmed-meshheading:17264095-Germ-Line Mutation,
pubmed-meshheading:17264095-Hemangioblastoma,
pubmed-meshheading:17264095-Humans,
pubmed-meshheading:17264095-Kaplan-Meier Estimate,
pubmed-meshheading:17264095-Male,
pubmed-meshheading:17264095-Middle Aged,
pubmed-meshheading:17264095-Mutation, Missense,
pubmed-meshheading:17264095-Risk Factors,
pubmed-meshheading:17264095-Von Hippel-Lindau Tumor Suppressor Protein,
pubmed-meshheading:17264095-von Hippel-Lindau Disease
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.
|
| pubmed:affiliation |
Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, UK.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|