Related Experiment Video

Updated: Aug 9, 2026

Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
10:16

Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines

Published on: October 8, 2015

Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population

Kyung Hee Kim1, Dong Wook Kang, Seong Ho Kim

  • 1Department of Pathology, College of Medicine, Chungnam National University, 6 Moonwha-1-dong, Jung-gu, Daejeon 301-131, Korea.

Yonsei Medical Journal
|October 30, 2004
PubMed

Insights

The BRAF V600E mutation is prevalent in 83% of Korean papillary thyroid carcinoma (PTC) cases. This BRAF mutation is linked to increased nodal metastasis, suggesting its role in PTC development and prognosis.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The BRAF gene encodes a serine/threonine kinase crucial for cell signaling pathways.
  • BRAF mutations are implicated in various cancers, notably melanoma.
  • Understanding BRAF mutation frequency in different ethnicities is vital for cancer research.

Purpose of the Study:

  • To determine the prevalence of BRAF mutations in Korean papillary thyroid carcinoma (PTC) patients.
  • To correlate BRAF mutation status with clinicopathological features, including nodal metastasis.
  • To assess the potential of BRAF as a prognostic marker in PTC.

Main Methods:

  • Direct DNA sequencing of PCR-amplified exon 15 of the BRAF gene.
  • Analysis of 70 paraffin-embedded conventional papillary thyroid carcinoma samples.
  • Statistical correlation between BRAF mutation and clinicopathological data.

Main Results:

  • A high frequency (83%) of the BRAF V599E missense mutation was observed in Korean PTC.
  • This frequency significantly exceeds that reported in other PTC populations (36-69%).
  • Patients with BRAF mutations showed a significantly higher incidence of nodal metastasis (p=0.048).

Conclusions:

  • The BRAF mutation is a frequent event in Korean PTC, suggesting a role in carcinogenesis.
  • BRAF mutation status may serve as a valuable prognostic indicator for PTC patients.
  • Targeted BRAF inhibitors represent a promising therapeutic strategy for PTC.

More Related Videos

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods07:49

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods

Published on: July 17, 2019

Comparative Lesions Analysis Through a Targeted Sequencing Approach08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Related Concept Videos

Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...