Linked Life Data

19067729

Source:http://linkedlifedata.com/resource/pubmed/id/19067729

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2009-2-24
pubmed:abstractText
About 30% of phaeochromocytoma and paraganglioma patients harbour a germline mutation in one of the known susceptibility genes and in more than one-third of these patients there is no family history for these tumours. The genetic classification, risk assessment and specific management of the patients and at risk family members play an important role in preventive medicine. Distinct diagnostic or therapeutic approaches related to the genetic testing results are and will be even more relevant in the future for the detection of mutation carriers. In addition to a positive family history, other clinical features such as young age at time of manifestation, multifocal tumours and specific tumour location are highly associated with the presence of a germline mutation - genetic testing in these cases should be mandatory. Since several genes are involved in the genetics of phaeochromocytoma and paraganglioma, prioritizing which gene(s) to be tested first by using simple clinical information can reduce the efforts and costs of this analysis. The clinicians offering and performing the genetic testing should provide or make available adequate counselling as well as access to preventive and surveillance options to patients. Collaboration with referral centres and research groups in this field can help to coordinate the management of these patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1365-2265
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
70
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
354-7
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
When should genetic testing be obtained in a patient with phaeochromocytoma or paraganglioma?
pubmed:affiliation
Department of Nephrology, Section for Preventive Medicine, University Medical Hospital, Freiburg, Germany.
pubmed:publicationType
Journal Article