Peptide nucleic acid clamp polymerase chain reaction reveals a deletion mutation of the BRAF gene in papillary thyroid carcinoma: A case report

Lee,Yong-Wha

doi:10.3892/etm.2013.1332

December 2013 Volume 6 Issue 6

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December 2013 Volume 6 Issue 6

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Case Report

Peptide nucleic acid clamp polymerase chain reaction reveals a deletion mutation of the BRAF gene in papillary thyroid carcinoma: A case report

Authors:
- Yong-Wha Lee
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Affiliations: Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital and Soonchunhyang University College of Medicine, Bucheon, Gyeonggi 420-767, Republic of Korea
Pages: 1550-1552
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Published online on: October 8, 2013

https://doi.org/10.3892/etm.2013.1332
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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.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Peptide nucleic acid clamp polymerase chain reaction reveals a deletion mutation of the BRAF gene in papillary thyroid carcinoma: A case report

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