Related Experiment Video
Updated: May 26, 2026
Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
BRAF V600E mutation is associated with tumor aggressiveness in papillary thyroid cancer
Su-jin Kim1, Kyu Eun Lee, Jun Pyo Myong
1Department of Surgery, Haeundae Paik Hospital, Inje University College of Medicine, 1435 Jwa-dong, Haeundae-gu, Busan, 612-030, Korea. su.jin.kim.md@gmail.com
Background:
The BRAF(V600E) mutation is the most common genetic alteration found in papillary thyroid cancer (PTC). Recent studies show that this mutation occurs more frequently in patients with PTC showing aggressive clinicopathologic features. The aim of the present study was to evaluate the prevalence of the BRAF(V600E) mutation in tumor samples and its association with high-risk clinicopathologic features prospectively.
Patients And Methods:
From February 2009 to January 2010, 547 PTC patients who underwent surgery in Seoul National University Hospital were enrolled in the study. Polymerase chain reaction was used to amplify exon 15 of the BRAF gene from paraffin-embedded thyroid tumor specimens, followed by direct sequencing to detect the BRAF(V600E) mutation. Both univariate and multivariate analyses were performed to analyze associations between the BRAF(V600E) mutation and clinicopathologic features.
Results:
The BRAF(V600E) mutation was found in 381/547 (69.7%) patients with primary PTC. The BRAF(V600E) mutation was significantly associated with age (≥ 45 years), tumor size (>1 cm), extrathyroidal extension, and cervical lymph node metastases (P < 0.05). Multiple logistic regression showed that it was significantly associated with gender (OR = 1.834; 95% CI 1.021-3.463), tumor size (OR = 1.972; 95% CI 1.250-3.103), and extra-thyroidal extension (OR = 2.428; 95% CI 1.484-3.992), but not with age, multifocality, lymph node metastases, and advanced disease stage. The proportion of BRAF(V600E) mutation was significantly associated with the number of high-risk factors of tumor recurrence (P < 0.001).
Conclusions:
The BRAF(V600E) mutation was associated with high-risk clinicopathologic characteristics in patients with PTC. The BRAF(V600E) mutation may be a potential prognostic factor in PTC patients.
Related Concept Videos
02:07Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
02:07Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
02:23Abnormal Proliferation
01:20The Retinoblastoma Gene
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,...
01:12Loss of Tumor Suppressor Gene Functions
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...