ArticleThe Journal of molecular diagnostics : JMD2007
Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanoma.
Article in The Journal of molecular diagnostics : JMD, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
46 citing papers in PubMed, 104 citations in OpenAlex.
- Phase II efficacy and pharmacogenomic study of Selumetinib (AZD6244; ARRY-142886) in iodine-131 refractory papillary thyroid carcinoma with or without follicular elements.Clinical cancer research : an official journal of the American Association for Cancer Research · 2012Trial
- Recurrent mutations in protein tyrosine phosphatase receptor-type kappa in depressed-type colorectal carcinomas.Journal of biochemistry · 2026Article
- Clinicopathological and molecular features of genome-stable colorectal cancers.Histology and histopathology · 2025Article
- Current smartphone-assisted point-of-care cancer detection: Towards supporting personalized cancer monitoring.Trends in analytical chemistry : TRAC · 2024Article
- Comparative efficiency of differential diagnostic methods for the identification of BRAF V600E gene mutation in papillary thyroid cancer (Review).Experimental and therapeutic medicine · 2024Review
- Machine learning algorithm improved automated droplet classification of ddPCR for detection of BRAF V600E in paraffin-embedded samples.Scientific reports · 2021Article
- The Current State of Molecular Testing in the BRAF-Mutated Melanoma Landscape.Frontiers in molecular biosciences · 2020Review
- Comparison of diagnostic methods for the detection of a BRAF mutation in papillary thyroid cancer.Oncology letters · 2019Article
- Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer.Clinical epigenetics · 2018Article
- KRAS, NRAS and BRAF analysis of ampullary adenocarcinoma classified using CK7, CK20, MUC1 and MUC2.Journal of gastrointestinal oncology · 2018Article
- Tumour mutation status and sites of metastasis in patients with cutaneous melanoma.British journal of cancer · 2017Article
- (18)F-FDG PET/CT imaging in rectal cancer: relationship with the RAS mutational status.The British journal of radiology · 2016Article
- Variations of BRAF mutant allele percentage in melanomas.BMC cancer · 2015Article
- Discordancy in BRAF mutations among primary and metastatic melanoma lesions: clinical implications for targeted therapy.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2015Article
- A mutant BRAF V600E-specific immunohistochemical assay: correlation with molecular mutation status and clinical outcome in colorectal cancer.Targeted oncology · 2015Article
- BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies.OncoTargets and therapy · 2015Review
- Article
- Reply: Intra-patient heterogeneity of BRAF mutation status: fact or fiction?British journal of cancer · 2014Article
- Prognostic and predictive biomarkers: tools in personalized oncology.Molecular diagnosis & therapy · 2014Review
- BRAF pyrosequencing analysis aided by a lookup table.American journal of clinical pathology · 2014Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Mutations in the BRAF gene are found in the majority of cutaneous malignant melanomas and subsets of other tumors. These mutations lead to constitutive activation of BRAF with increased downstream ERK (extracellular signal-regulated kinase) signaling; therefore, the development of RAF kinase inhibitors for targeted therapy is being actively pursued. A methodology that allows sensitive, cost-effective, high-throughput analysis of BRAF mutations will be needed to triage patients for specific molecular-based therapies. Pyrosequencing is a high-throughput, sequencing-by-synthesis method that is particularly useful for analysis of single nucleotide polymorphisms or hotspot mutations. Mutational analysis of BRAF is highly amenable to pyrosequencing because the majority of mutations in this gene localize to codons 600 and 601 and consist of single or dinucleotide substitutions. In this study, DNAs from a panel of melanocyte cell lines, melanoma cell lines, and melanoma tumors were used to validate a pyrosequencing assay to detect BRAF mutations. The assay demonstrates high accuracy and precision for detecting common and variant exon 15 BRAF mutations. Further, comparison of pyrosequencing data with 100K single nucleotide polymorphism microarray data allows characterization of BRAF amplification events that may accompany BRAF mutation. Pyro-sequencing serves as an excellent platform for BRAF genotyping of tumors from patients entering clinical trial.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.