Peptide nucleic acid clamp polymerase chain reaction reveals a deletion mutation of the BRAF gene in papillary thyroid carcinoma: A case report
DC Field | Value | Language |
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dc.contributor.author | Lee, Yong-Wha | - |
dc.date.accessioned | 2021-08-12T00:26:12Z | - |
dc.date.available | 2021-08-12T00:26:12Z | - |
dc.date.issued | 2013-12 | - |
dc.identifier.issn | 1792-0981 | - |
dc.identifier.issn | 1792-1015 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/13161 | - |
dc.description.abstract | The BRAF point mutation is the most common genetic event in papillary thyroid carcinoma (PTC), occurring in 29-69% of such tumors. The V600E mutation accounts for up to 95% of all BRAF mutations. Therefore, the majority of diagnostic assays have been developed to detect only the V600E mutation of the BRAF gene. A peptide nucleic-acid (PNA)-clamp quantitative polymerase chain reaction (qPCR) was developed to detect the V600E mutation and other mutations in the BRAF gene. In this study, a 3-bp deletion mutation (c.1799_ 1801delTGA) was detected in a subject with a PTC by PNA clamp qPCR, in contrast with the results of allele-specific (AS)-PCR. The mutant allele was not detected by AS-PCR, but was detected using PNA-clamp PCR. The atypical 3-bp deletion mutation (c.1799_1801delTGA) was identified by confirmatory PCR combined with sequencing. The conversion of codons 600 (GTG) and 601 (AAA) into a single codon (GAA) resulted in the insertion of a glutamic acid residue into the activation segment of the B-raf protein (p.V600_K601delinsE). In cases where PTC is highly suspected but no mutation is detected by AS-PCR specific for V600E, PNA clamp qPCR, which is complementary to other sequencing methods, should be performed in order to detect other mutations in the BRAF gene. | - |
dc.format.extent | 3 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | Spandidos Publications | - |
dc.title | Peptide nucleic acid clamp polymerase chain reaction reveals a deletion mutation of the BRAF gene in papillary thyroid carcinoma: A case report | - |
dc.type | Article | - |
dc.publisher.location | 그리이스 | - |
dc.identifier.doi | 10.3892/etm.2013.1332 | - |
dc.identifier.scopusid | 2-s2.0-84888421183 | - |
dc.identifier.wosid | 000330782800038 | - |
dc.identifier.bibliographicCitation | Experimental and Therapeutic Medicine, v.6, no.6, pp 1550 - 1552 | - |
dc.citation.title | Experimental and Therapeutic Medicine | - |
dc.citation.volume | 6 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 1550 | - |
dc.citation.endPage | 1552 | - |
dc.type.docType | Article | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Research & Experimental Medicine | - |
dc.relation.journalWebOfScienceCategory | Medicine, Research & Experimental | - |
dc.subject.keywordPlus | BRAF(V600E) MUTATION | - |
dc.subject.keywordPlus | CANCER | - |
dc.subject.keywordAuthor | BRAF | - |
dc.subject.keywordAuthor | papillary thyroid carcinoma | - |
dc.subject.keywordAuthor | peptide nucleic acid | - |
dc.subject.keywordAuthor | sequencing | - |
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