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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2007-2-2
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pubmed:abstractText |
The ability to predict the risk of MEN2 and medullary thyroid carcinoma (MTC) by genetic RET proto-oncogene analysis has provided an essential tool in identifying patients in whom thyroid cancer can be prevented by prophylactic thyroidectomy but emphasizes the need for clear policy guidelines. Children of families with RET cysteine mutations (exons 10, 11, 13, and 16) may develop early metastatic tumours and require prophylactic thyroidectomy. The 918 mutation associated with MEN2B is associated with early aggressive behaviour and distant metastatic spread. This has led to active screening of affected families underlining the need for specific intervention strategies.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1531-5037
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
326-32
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17270543-Adult,
pubmed-meshheading:17270543-Alleles,
pubmed-meshheading:17270543-Carcinoma, Medullary,
pubmed-meshheading:17270543-Child, Preschool,
pubmed-meshheading:17270543-Cohort Studies,
pubmed-meshheading:17270543-DNA Mutational Analysis,
pubmed-meshheading:17270543-Female,
pubmed-meshheading:17270543-Genetic Predisposition to Disease,
pubmed-meshheading:17270543-Genetic Testing,
pubmed-meshheading:17270543-Genotype,
pubmed-meshheading:17270543-Heterozygote,
pubmed-meshheading:17270543-Humans,
pubmed-meshheading:17270543-Incidence,
pubmed-meshheading:17270543-Infant,
pubmed-meshheading:17270543-Male,
pubmed-meshheading:17270543-Multiple Endocrine Neoplasia Type 2a,
pubmed-meshheading:17270543-Pedigree,
pubmed-meshheading:17270543-Polymerase Chain Reaction,
pubmed-meshheading:17270543-Primary Prevention,
pubmed-meshheading:17270543-Probability,
pubmed-meshheading:17270543-Proto-Oncogene Proteins c-ret,
pubmed-meshheading:17270543-Reference Values,
pubmed-meshheading:17270543-Risk Assessment,
pubmed-meshheading:17270543-Thyroid Neoplasms,
pubmed-meshheading:17270543-Thyroidectomy
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pubmed:year |
2007
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pubmed:articleTitle |
Familial medullary carcinoma prevention, risk evaluation, and RET in children of families with MEN2.
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pubmed:affiliation |
Department of Pediatric Surgery, University of Stellenbosch Medical Faculty, PO Box 19063, Tygerberg 7505, South Africa. swm@sun.ac.za
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pubmed:publicationType |
Journal Article
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