Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.V600delins
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BRAF

NM_004333.6:p.V600delins

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

S100 and CD34 positive spindle cell tumors of the uterine cervix with EGFR mutation: a hitherto unrecognized neoplasm phenotypically and epigenetically overlapping with "NTRK-rearranged spindle cell neoplasms" of the uterus.

Michal M et al.

Virchows Archiv : an International Journal of Pathology, 2025

Comparison of Sequencing-by-Synthesis and Avidity Base Chemistry Next-Generation Sequencing Platforms in Identifying Somatic Variants of Hematological Malignancies.

Lim MH et al.

The Journal of Applied Laboratory Medicine, 2025

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

DNA Methylation Array Analysis Identifies Biological Subgroups of Cutaneous Melanoma and Reveals Extensive Differences with Benign Melanocytic Nevi.

Schwendinger S et al.

Diagnostics (basel, Switzerland), 2025

40075779 (PubMed )
Supplement: diagnostics-15-00531-s001.zip › Supplementary_Data.xlsx › Mutations

Importance of EQA/PT for the detection of genetic variants in comprehensive cancer genome testing.

Matsushita K et al.

Scientific Reports, 2025

ClinVar: updates to support classifications of both germline and somatic variants.

Landrum MJ et al.

Nucleic Acids Research, 2025

A Comparative Genomic Study of Conventional and Undifferentiated Melanoma.

Fischer GM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

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

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

Adaptation of a mutual exclusivity framework to identify driver mutations within oncogenic pathways.

Wang X et al.

American Journal of Human Genetics, 2024

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

Dudin O et al.

Journal of Skin Cancer, 2024

Validation of a Molecular Diagnostic Test for Circulating Tumor DNA by Next-Gen Sequencing.

Fernandez SV et al.

International Journal of Molecular Sciences, 2023

Deep-penetrating-nevus-like melanoma arising in patients with familial adenomatous polyposis syndrome.

Russell-Goldman E et al.

Journal of Cutaneous Pathology, 2023

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

Castellani G et al.

Cancers, 2023

FOCUS4 biomarker laboratories: from the benefits to the practical and logistical issues faced during 6 years of centralised testing.

Richman SD et al.

Journal of Clinical Pathology, 2023

Clinicopathologic and genetic characterization of invasive melanoma with BRAF V600K mutation: A study of 16 cases.

Goto K et al.

Journal of Cutaneous Pathology, 2023

Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Fitzgerald S et al.

Molecular Diagnosis & Therapy, 2023

37099071 (PubMed )
Supplement: 40291_2023_651_MOESM1_ESM.xlsx › Suppl._Table_10

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

A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data.

Kontogianni G et al.

Cancers, 2023

36765773 (PubMed )
Supplement: cancers-15-00815-s001.zip › Tables_S1-S7.xlsx › Supplementary_Table_1

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_1.xlsx › Validation_I

Utility of ctDNA Liquid Biopsies from Cancer Patients: An Institutional Study of 285 ctDNA Samples.

Gumà J et al.

Cancers, 2022

36497340 (PubMed )
Supplement: cancers-14-05859-s001.zip › cancers-2069645-supplementary.pdf

Clinical validation and implementation of droplet digital PCR for the detection of BRAF mutations from cell-free DNA.

Arnolda R et al.

Pathology, 2022

Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.

Kuang S et al.

Current Oncology (toronto, Ont.), 2022

35877212 (PubMed )
Supplement: curroncol-29-00352-s001.zip › LUNGS1_16_june_2022_supplemental_2_variants_no_code.pdf

Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Huang F et al.

Scientific Reports, 2022

35688842 (PubMed )
Supplement: 41598_2022_13391_MOESM5_ESM.xlsx › NGS_data

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

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

Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas.

Wolter M et al.

Acta Neuropathologica Communications, 2022

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

Calibration-free NGS quantitation of mutations below 0.01% VAF.

Dai P et al.

Nature Communications, 2021

34675197 (PubMed )
Supplement: 41467_2021_26308_MOESM1_ESM.pdf

Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.

Thirunavukarasu D et al.

Genome Biology, 2021

34482832 (PubMed )
Supplement: 13059_2021_2449_MOESM1_ESM.pdf

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

Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI).

Vanni I et al.

Diagnostic Pathology, 2020

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
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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."