Source:http://linkedlifedata.com/resource/pubmed/id/20497437
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2010-12-14
|
| pubmed:abstractText |
Multiple endocrine neoplasia type 2 (MEN 2) is a genetic syndrome caused by germline mutations in the RET proto-oncogene. These mutations cause changes in either the cysteine-rich extracellular domain or, less commonly, the non-cysteine intracellular domains of the RET protein. The genotype-phenotype correlations of classical cysteine RET mutations have been the subject of several comprehensive reviews. Less is known about the characteristics of the non-cysteine RET mutations. Studies of familial medullary thyroid cancer and MEN 2A kindreds carrying non-cysteine RET mutations have revealed a wide array of phenotypes, variable penetrance, and a diverse clinical course. The observed heterogeneity in disease expression has important diagnostic, therapeutic and prognostic implications. This review summarizes the genotypic and phenotypic characteristics of RET codon 804 mutation, a prototype for the less well-defined non-cysteine RET mutations associated with MEN 2.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
1399-0004
|
| pubmed:author | |
| pubmed:copyrightInfo |
© 2010 John Wiley & Sons A/S.
|
| pubmed:issnType |
Electronic
|
| pubmed:volume |
79
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1-16
|
| pubmed:meshHeading |
pubmed-meshheading:20497437-Adolescent,
pubmed-meshheading:20497437-Adult,
pubmed-meshheading:20497437-Child,
pubmed-meshheading:20497437-Child, Preschool,
pubmed-meshheading:20497437-Codon,
pubmed-meshheading:20497437-Cysteine,
pubmed-meshheading:20497437-Female,
pubmed-meshheading:20497437-Genetic Association Studies,
pubmed-meshheading:20497437-Germ-Line Mutation,
pubmed-meshheading:20497437-Humans,
pubmed-meshheading:20497437-Infant,
pubmed-meshheading:20497437-Male,
pubmed-meshheading:20497437-Middle Aged,
pubmed-meshheading:20497437-Multiple Endocrine Neoplasia Type 2a,
pubmed-meshheading:20497437-Penetrance,
pubmed-meshheading:20497437-Point Mutation,
pubmed-meshheading:20497437-Proto-Oncogene Proteins c-ret,
pubmed-meshheading:20497437-Proto-Oncogenes,
pubmed-meshheading:20497437-Thyroid Neoplasms,
pubmed-meshheading:20497437-Young Adult
|
| pubmed:year |
2011
|
| pubmed:articleTitle |
RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.
|
| pubmed:affiliation |
Beaumont Cancer Genetics Program, Beaumont Cancer Institute, William Beaumont Hospital, Royal Oak, MI 48073, USA. Sudipto.Mukherjee@beaumont.edu
|
| pubmed:publicationType |
Journal Article,
Review
|