|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0025268,
umls-concept:C0026882,
umls-concept:C0032729,
umls-concept:C0205099,
umls-concept:C0205147,
umls-concept:C0205314,
umls-concept:C0679622,
umls-concept:C0694890,
umls-concept:C0868928,
umls-concept:C1555721,
umls-concept:C1706204,
umls-concept:C1833929,
umls-concept:C2745955
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|
pubmed:issue |
6
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|
pubmed:dateCreated |
2006-5-22
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|
pubmed:abstractText |
Medullary thyroid carcinoma (MTC) occurs both sporadically and in the context of autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN2) syndromes: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC), which are caused by activating germline mutations in the RET proto-oncogene. The aim of this study was to characterize the RET mutational spectrum in MEN2 families and apparently sporadic MTC (AS-MTC) cases originating from the central region of Portugal.
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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 |
Jun
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pubmed:issn |
0300-0664
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
659-66
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16712668-Adult,
pubmed-meshheading:16712668-Aged,
pubmed-meshheading:16712668-Animals,
pubmed-meshheading:16712668-Base Sequence,
pubmed-meshheading:16712668-Carcinoma, Medullary,
pubmed-meshheading:16712668-DNA Mutational Analysis,
pubmed-meshheading:16712668-Female,
pubmed-meshheading:16712668-Gene Frequency,
pubmed-meshheading:16712668-Genotype,
pubmed-meshheading:16712668-Humans,
pubmed-meshheading:16712668-Male,
pubmed-meshheading:16712668-Molecular Sequence Data,
pubmed-meshheading:16712668-Multiple Endocrine Neoplasia Type 2a,
pubmed-meshheading:16712668-Mutation,
pubmed-meshheading:16712668-Pedigree,
pubmed-meshheading:16712668-Portugal,
pubmed-meshheading:16712668-Proto-Oncogene Proteins c-ret,
pubmed-meshheading:16712668-Sequence Alignment,
pubmed-meshheading:16712668-Thyroid Neoplasms
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pubmed:year |
2006
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pubmed:articleTitle |
Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal.
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pubmed:affiliation |
Molecular Pathology Laboratory, Regional Centre of Oncology of Coimbra, Portuguese Institute of Oncology, Coimbra, Portugal. upmolecular@croc.min-saude.pt
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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