Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.V600delins
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BRAF

NM_004333.6:p.V600delins

Associated Papers

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.

Das K et al.

Scientific Reports, 2025

40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S6

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

MET amplification correlates with poor prognosis and immunotherapy response as a subtype of melanoma: a multicenter retrospective study.

Cai X et al.

Bmc Cancer, 2024

39528978 (PubMed )
Supplement: 12885_2024_13163_MOESM1_ESM.xlsx › SNVs

Super multiple primary lung cancers harbor high-frequency BRAF and low-frequency EGFR mutations in the MAPK pathway.

Li H et al.

Npj Precision Oncology, 2024

39384982 (PubMed )
Supplement: 41698_2024_726_MOESM1_ESM.pdf

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

Dynamics of RAS Mutations in Liquid Biopsies in Metastatic Colorectal Cancer Patients-Case Series and Literature Review.

Popescu I et al.

Journal of Personalized Medicine, 2024

39064004 (PubMed )
Supplement: jpm-14-00750-s001.zip › jpm-3006960-supplementary.pdf

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM5_ESM.xlsx › S5

Resolving Discrepancies in Idylla BRAF Mutational Assay Results Using Targeted Next-Generation Sequencing.

George GV et al.

Genes, 2024

Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.

Maloberti T et al.

Diagnostics (basel, Switzerland), 2024

38667446 (PubMed )
Supplement: diagnostics-14-00800-s001.zip › Supplementary_Table_S1.xlsx › Foglio1

Predicting BRAF Mutations in Cutaneous Melanoma Patients Using Neural Network Analysis.

Dudin O et al.

Journal of Skin Cancer, 2024

BRAF Mutations in Melanoma: Biological Aspects, Therapeutic Implications, and Circulating Biomarkers.

Castellani G et al.

Cancers, 2023

Preoperative Mutational Analysis of Circulating Tumor Cells (CTCs) and Plasma-cfDNA Provides Complementary Information for Early Prediction of Relapse: A Pilot Study in Early-Stage Non-Small Cell Lung Cancer.

Markou AN et al.

Cancers, 2023

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_4.xlsx › All_melanoma-targeted_subpanel

NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.

Jung K et al.

Scientific Reports, 2022

36463295 (PubMed )
Supplement: 41598_2022_24732_MOESM1_ESM.xlsx › S4._Overall_mutation_profile

Utility of Select Gene Mutation Detection in Tumors by the Idylla Rapid Multiplex PCR Platform in Comparison to Next-Generation Sequencing.

Nkosi D et al.

Genes, 2022

35627184 (PubMed )
Supplement: genes-13-00799-s001.zip › genes-1613678-supplementary.pdf

A Complex of Pyrosequencing-Based Methods for Detection of Somatic Mutations in Codons 600 and 601 of the BRAF gene.

Dribnokhodova OP et al.

Sovremennye Tekhnologii V Meditsine, 2022

Cross-reactivity of NRASQ61R antibody in a subset of Spitz nevi with 11p gain: a potential confounding factor in the era of pathway-based diagnostic approach.

Parra O et al.

Human Pathology, 2021

High sensitivity sanger sequencing detection of BRAF mutations in metastatic melanoma FFPE tissue specimens.

Cheng LY et al.

Scientific Reports, 2021

33907234 (PubMed )
Supplement: 41598_2021_88391_MOESM1_ESM.pdf

Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Hayashi H et al.

Cancer Science, 2020

32772458 (PubMed )
Supplement: CAS-111-3926-s001.xlsx › TABLE_S3

Personalized Treatment Selection and Disease Monitoring Using Circulating Tumor DNA Profiling in Real-World Cancer Patient Management.

Wehrle J et al.

Diagnostics (basel, Switzerland), 2020

32748806 (PubMed )
Supplement: diagnostics-10-00550-s001.zip › Supplementary › Supplementary_figures.pdf

Comparison of BRAF Mutation Screening Strategies in a Large Real-Life Series of Advanced Melanoma Patients.

Colombino M et al.

Journal of Clinical Medicine, 2020

Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity.

Al-Obaidy KI et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Rapid BRAF Mutation Testing in Pigmented Melanomas.

Petty DR et al.

The American Journal of Dermatopathology, 2020

Rapid clinical mutational testing of KRAS, BRAF and EGFR: a prospective comparative analysis of the Idylla technique with high-throughput next-generation sequencing.

Van Haele M et al.

Journal of Clinical Pathology, 2020

Mutational Portrait of Lung Adenocarcinoma in Brazilian Patients: Past, Present, and Future of Molecular Profiling in the Clinic.

Freitas HC et al.

Frontiers in Oncology, 2020

32714871 (PubMed )
Supplement: Data_Sheet_1.XLSX › Panel_-_Tumor_Tests

Detection of BRAF V600E Mutation in Ganglioglioma and Pilocytic Astrocytoma by Immunohistochemistry and Real-Time PCR-Based Idylla Test.

Durślewicz J et al.

Disease Markers, 2020

Baseline Genomic Features in BRAFV600-Mutated Metastatic Melanoma Patients Treated with BRAF Inhibitor + MEK Inhibitor in Routine Care.

Louveau B et al.

Cancers, 2019

31426590 (PubMed )
Supplement: cancers-11-01203-s001.pdf

Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing.

Lokhandwala PM et al.

Bmc Cancer, 2019

Locus-specific concordance of genomic alterations between tissue and plasma circulating tumor DNA in metastatic melanoma.

Calapre L et al.

Molecular Oncology, 2019

30312528 (PubMed )
Supplement: MOL2-13-171-s003.xlsx › Table_S2

Evaluation of KRAS, NRAS and BRAF hotspot mutations detection for patients with metastatic colorectal cancer using direct DNA pipetting in a fully-automated platform and Next-Generation Sequencing for laboratory workflow optimisation.

Gilson P et al.

Plos One, 2019

BRAF Gene Copy Number and Mutant Allele Frequency Correlate with Time to Progression in Metastatic Melanoma Patients Treated with MAPK Inhibitors.

Stagni C et al.

Molecular Cancer Therapeutics, 2018

Development of ultra-short PCR assay to reveal BRAF V600 mutation status in Thai colorectal cancer tissues.

Chat-Uthai N et al.

Plos One, 2018

Canary: an atomic pipeline for clinical amplicon assays.

Doig KD et al.

Bmc Bioinformatics, 2017

Detection of BRAF, NRAS, KIT, GNAQ, GNA11 and MAP2K1/2 mutations in Russian melanoma patients using LNA PCR clamp and biochip analysis.

Emelyanova M et al.

Oncotarget, 2017

Clinical and therapeutic implications of BRAF mutation heterogeneity in metastatic melanoma.

Mesbah Ardakani N et al.

Pigment Cell & Melanoma Research, 2017

A variant by any name: quantifying annotation discordance across tools and clinical databases.

Yen JL et al.

Genome Medicine, 2017

28122645 (PubMed )
Supplement: 13073_2016_396_MOESM1_ESM.xlsx › Table_S1

Detection of Rare Mutations by Routine Analysis of KRAS, NRAS, and BRAF Oncogenes.

Mikhailenko DS et al.

Bulletin of Experimental Biology and Medicine, 2017

OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice.

Muller E et al.

Oncotarget, 2016

27825131 (PubMed )
Supplement: oncotarget-07-79485-s002.pdf

Detection of BRAF Mutations Using a Fully Automated Platform and Comparison with High Resolution Melting, Real-Time Allele Specific Amplification, Immunohistochemistry and Next Generation Sequencing Assays, for Patients with Metastatic Melanoma.

Harlé A et al.

Plos One, 2016

Dual NRASQ61R and BRAFV600E mutation-specific immunohistochemistry completes molecular screening in melanoma samples in a routine practice.

Uguen A et al.

Human Pathology, 2015

Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

Siroy AE et al.

The Journal of Investigative Dermatology, 2015

25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf

Implementation of a companion diagnostic in the clinical laboratory: the BRAF example in melanoma.

Mancini I et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

BRAF pyrosequencing analysis aided by a lookup table.

Olson MT et al.

American Journal of Clinical Pathology, 2014

Quantitative assessment of mutant allele burden in solid tumors by semiconductor-based next-generation sequencing.

Portier BP et al.

American Journal of Clinical Pathology, 2014

A multisite blinded study for the detection of BRAF mutations in formalin-fixed, paraffin-embedded malignant melanoma.

Richter A et al.

Scientific Reports, 2013

Application of a BRAF pyrosequencing assay for mutation detection and copy number analysis in malignant melanoma.

Spittle C et al.

The Journal of Molecular Diagnostics : Jmd, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."