Identification of a Rare 3 bp BRAF Gene Deletion in a Thyroid Nodule by Mutant Enrichment with 3'-Modified Oligonucleotides Polymerase Chain Reaction
Annals of Laboratory Medicine
;
: 238-241, 2012.
Artigo
em Inglês
| WPRIM
| ID: wpr-214985
ABSTRACT
Papillary thyroid carcinoma (PTC) is the most common malignant thyroid tumor, and 36-69% of PTC cases are caused by mutations in the BRAF gene. The substitution of a valine for a glutamic acid (V600E) comprises up to 95-100% of BRAF mutations; therefore, most diagnostic methods, including allele-specific PCR and real-time PCR, are designed to detect this mutation. Nevertheless, other mutations can also comprise the genetic background of PTC. Recently, a novel and sensitive technique called mutant enrichment with 3'-modified oligonucleotides (MEMO) PCR has been introduced. When we applied allelespecific PCR and MEMO-PCR for the detection of the BRAF V600E mutation, we found an unusual 3' bp deletion mutation (c.1799_1801delTGA) only when using MEMO-PCR. This deletion results in the introduction of a glutamic acid into the B-Raf activation segment (p.V600_K601delinsE), leading to an elevated basal kinase activity of BRAF. This is the first report of a rare 3 bp BRAF deletion in a PTC patient that could not be detected by allele-specific PCR.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Oligonucleotídeos
/
Neoplasias da Glândula Tireoide
/
Sequência de Bases
/
Reação em Cadeia da Polimerase
/
Nódulo da Glândula Tireoide
/
Deleção de Sequência
/
Proteínas Proto-Oncogênicas B-raf
/
Alelos
/
Metástase Linfática
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Annals of Laboratory Medicine
Ano de publicação:
2012
Tipo de documento:
Artigo
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