Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.G596D
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BRAF

NM_004333.6:p.G596D

Associated Papers

Rapid response to BRAF/MEK inhibitor therapy within 2 weeks for high-grade glioma with leptomeningeal metastasis: illustrative case.

Kawaguchi Y et al.

Journal of Neurosurgery. Case Lessons, 2025

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

BRAF V600E in cancer: Exploring structural complexities, mutation profiles, and pathway dysregulation.

Bharti J et al.

Experimental Cell Research, 2025

Genomic Landscapes of Early-Onset Versus Average-Onset Colorectal Cancer Populations.

Storandt MH et al.

Cancers, 2025

40075683 (PubMed )
Supplement: cancers-17-00836-s001.zip › cancers-3446894-supplementary.pdf

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.

Cokpinar S et al.

Journal of Clinical Medicine, 2024

39685930 (PubMed )
Supplement: jcm-13-07472-s001.zip › jcm-3207376-supplementary.pdf

Case Series: EGFR and ROS-1 Co-Occurrence in Advanced Non-Small Cell Lung Cancer.

Alfayea T et al.

Journal of Immunotherapy and Precision Oncology, 2024

Features and efficacy of triple-targeted therapy for patients with EGFR-mutant non-small-cell lung cancer with acquired BRAF alterations who are resistant to epidermal growth factor receptor tyrosine kinase inhibitors.

Li Y et al.

Esmo Open, 2024

Beyond tobacco: genomic disparities in lung cancer between smokers and never-smokers.

Garrido J et al.

Bmc Cancer, 2024

39097719 (PubMed )
Supplement: 12885_2024_12737_MOESM2_ESM.xlsx › Table_S2

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Follicular cell-derived thyroid carcinomas harboring novel genetic BRAFNON-V600E mutations: real-world data obtained using a multigene panel.

von Ammon JL et al.

Archives of Endocrinology and Metabolism, 2024

BRAF mutations and concurrent alterations in patients with soft tissue sarcoma.

Kobayashi H et al.

Genes, Chromosomes & Cancer, 2023

BRAF Non-V600 Mutations in Metastatic Colorectal Cancer.

Liu J et al.

Cancers, 2023

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Integrated molecular and clinical analysis of BRAF-mutant glioma in adults.

Schreck KC et al.

Npj Precision Oncology, 2023

Tumor-Type Agnostic, Targeted Therapies: BRAF Inhibitors Join the Group.

Vranic S et al.

Acta Medica Academica, 2022

RAF-MEK-ERK pathway in cancer evolution and treatment.

Ullah R et al.

Seminars in Cancer Biology, 2022

BRAF and MEK Targeted Therapies in Pediatric Central Nervous System Tumors.

Talloa D et al.

Cancers, 2022

Genomic Landscape, Clinical Features and Outcomes of Non-Small Cell Lung Cancer Patients Harboring BRAF Alterations of Distinct Functional Classes.

Di Federico A et al.

Cancers, 2022

35884534 (PubMed )
Supplement: cancers-14-03472-s001.zip › cancers-1806422-supplementary.pdf

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Spectrum of BRAF Aberrations and Its Potential Clinical Implications: Insights From Integrative Pan-Cancer Analysis.

Yi Q et al.

Frontiers in Bioengineering and Biotechnology, 2022

35910024 (PubMed )
Supplement: Table2.XLSX › table

BRAF Mutations as Actionable Targets: A Paradigm Shift in the Management of Colorectal Cancer and Novel Avenues.

Sahin IH et al.

Jco Oncology Practice, 2021

BRAF mutations may identify a clinically distinct subset of glioblastoma.

McNulty SN et al.

Scientific Reports, 2021

BRAFnon-V600E more frequently co-occurs with IDH1/2 mutations in adult patients with gliomas than in patients harboring BRAFV600E but without a survival advantage.

Wang W et al.

Bmc Neurology, 2021

33980169 (PubMed )
Supplement: 12883_2021_2224_MOESM1_ESM.xlsx › Sheet1

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

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

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS5.ActMutationClusters

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS1

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

BRAF: A Two-Faced Janus.

Pisapia P et al.

Cells, 2020

Emerging BRAF Mutations in Cancer Progression and Their Possible Effects on Transcriptional Networks.

Śmiech M et al.

Genes, 2020

Association between BRAF mutant classification and the efficacy of pemetrexed-based chemotherapy in Chinese advanced non-small cell lung cancer patients: a multicenter retrospective study.

Lei L et al.

Translational Cancer Research, 2020

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Yasuda T et al.

Cancer Science, 2020

32619037 (PubMed )
Supplement: CAS-111-3367-s004.xlsx › Sup.Table4

Clinical Relevance of BRAF V600E Mutation Status in Brain Tumors with a Focus on a Novel Management Algorithm.

Kowalewski A et al.

Targeted Oncology, 2020

Clinical Implication of Concordant or Discordant Genomic Profiling between Primary and Matched Metastatic Tissues in Patients with Colorectal Cancer.

Choi JY et al.

Cancer Research and Treatment, 2020

An Animal Model Further Uncovers the Role of Mutant BrafV600E during Papillary Thyroid Cancer Development.

Koelsch B et al.

The American Journal of Pathology, 2020

BRAF AMP Frequently Co-occurs With IDH1/2, TP53, and ATRX Mutations in Adult Patients With Gliomas and Is Associated With Poorer Survival Than That of Patients Harboring BRAF V600E.

Da R et al.

Frontiers in Oncology, 2020

3D spatial organization and network-guided comparison of mutation profiles in Glioblastoma reveals similarities across patients.

Dincer C et al.

Plos Computational Biology, 2019

BRAF Mutations and the Utility of RAF and MEK Inhibitors in Primary Brain Tumors.

Schreck KC et al.

Cancers, 2019

Atypical BRAF and NRAS Mutations in Mucosal Melanoma.

Dumaz N et al.

Cancers, 2019

31398831 (PubMed )
Supplement: cancers-11-01133-s001.zip › cancers-555912.xlsx › Table_2

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

Rare BRAF mutations in pancreatic neuroendocrine tumors may predict response to RAF and MEK inhibition.

Allen A et al.

Plos One, 2019

Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches.

Ellis HP et al.

Journal of Oncology, 2019

32082376 (PubMed )
Supplement: 4878547.f1.zip › 4878547.f1 › Ellis_et_al_SNVs_041018_Supplementary_Tables.xlsx › TableS7_TCGA_mutatons

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

Real-Time Genomic Characterization of Metastatic Pancreatic Neuroendocrine Tumors Has Prognostic Implications and Identifies Potential Germline Actionability.

Raj N et al.

Jco Precision Oncology, 2018

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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."