Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.D594E
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BRAF

NM_004333.6:p.D594E

Associated Papers

Diagnostic sequencing identifies high-risk markers and mechanisms of resistance to guide immunotherapy selection.

Sudha P et al.

Blood Advances, 2026

Malignant Melanoma: Landscape of Molecular Markers.

Winter M et al.

Biomedicines, 2026

A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.

Siu LL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40875525 (PubMed )
Supplement: ccr-25-1648_supplementary_table_s5_suppts5.xlsx › Sheet1

Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.

Terashima Y et al.

Cancer Science, 2025

40734624 (PubMed )
Supplement: CAS-116-2868-s002.xlsx › Table_S3

Treatment outcome of NSCLC patients with BRAFnon-V600E mutations: a retrospective, multicentre analysis within the national Network Genomic Medicine (nNGM) Lung Cancer in Germany.

Kropf-Sanchen C et al.

Esmo Open, 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

Navigating Therapeutic Challenges in BRAF-Mutated NSCLC: Non-V600 Mutations, Immunotherapy, and Overcoming Resistance.

Bortolot M et al.

International Journal of Molecular Sciences, 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

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

Concurrent NRAS-BRAF variants in metastatic colorectal cancer: a Tunisian case report.

Douik H et al.

Anti-cancer Drugs, 2024

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events.

Boleti OD et al.

International Journal of Cardiology, 2023

Circulating tumor DNA landscape and prognostic impact of acquired resistance to targeted therapies in cancer patients: a national center for precision medicine (PRISM) study.

Bayle A et al.

Molecular Cancer, 2023

37924050 (PubMed )
Supplement: 12943_2023_1878_MOESM3_ESM.xlsx › Feuil1

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

Hairy cell leukaemia with unusual BRAF mutations.

Maitre E et al.

Journal of Cellular and Molecular Medicine, 2023

Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).

Richards CE et al.

International Journal of Molecular Sciences, 2023

37445722 (PubMed )
Supplement: ijms-24-10545-s001.zip › PTPN11_paper_supplementary_tables_25042023.pdf

KRAS, NRAS, BRAF, HER2 and MSI Status in a Large Consecutive Series of Colorectal Carcinomas.

Martianov AS et al.

International Journal of Molecular Sciences, 2023

36902296 (PubMed )
Supplement: ijms-24-04868-s001.zip › ijms-2214519-supplementary.pdf

Case report: Complete response of an anaplastic thyroid carcinoma patient with NRAS Q61R/BRAF D594N mutations to the triplet of dabrafenib, trametinib and PD-1 antibody.

Gui L et al.

Frontiers in Immunology, 2023

Clinical and genomic correlates of imatinib response in melanomas with KIT alterations.

Jung S et al.

British Journal of Cancer, 2022

NGS-Based Molecular Karyotyping of Multiple Myeloma: Results from the GEM12 Clinical Trial.

Rosa-Rosa JM et al.

Cancers, 2022

36291952 (PubMed )
Supplement: cancers-14-05169-s001.zip › cancers-1947661-supplementary › Supplementary_Tables.xlsx › Supplementary_Table_S3

Distinct mutational features across preinvasive and invasive subtypes identified through comprehensive profiling of surgically resected lung adenocarcinoma.

Xiang C et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

35641658 (PubMed )
Supplement: 41379_2022_1076_MOESM1_ESM.pdf

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

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

Recurrent PTPRZ1-MET fusion and a high occurrence rate of MET exon 14 skipping in brain metastases.

Chai RC et al.

Cancer Science, 2022

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Mellis R et al.

Bjog : an International Journal of Obstetrics and Gynaecology, 2022

Tumor Genomic Profiling and Ex Vivo Drug Sensitivity Testing for Pediatric Leukemia and Lymphoma Patients.

Eaton A et al.

The Journal of Pediatric Pharmacology and Therapeutics : Jppt : the Official Journal of Ppag, 2022

Detection of therapeutically relevant and concomitant rare somatic variants in colorectal cancer.

Mikolajcik P et al.

Neoplasma, 2021

Recurrent KRAS, KIT and SF3B1 mutations in melanoma of the female genital tract.

Cai YJ et al.

Bmc Cancer, 2021

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

Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database.

Owsley J et al.

Experimental Biology and Medicine (maywood, N.j.), 2021

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

Performance Characteristics of a Targeted Sequencing Platform for Simultaneous Detection of Single Nucleotide Variants, Insertions/Deletions, Copy Number Alterations, and Gene Fusions in Cancer Genome.

Park K et al.

Archives of Pathology & Laboratory Medicine, 2020

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

Śmiech M et al.

Genes, 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

BRAF and DIS3 Mutations Associate with Adverse Outcome in a Long-term Follow-up of Patients with Multiple Myeloma.

Boyle EM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

The extended spectrum of RAS-MAPK pathway mutations in colorectal cancer.

Costigan DC et al.

Genes, Chromosomes & Cancer, 2020

Implementation of an NGS panel for clinical practice in paraffin-embedded tissue samples from locally advanced and metastatic melanoma patients.

Castillo P et al.

Exploration of Targeted Anti-tumor Therapy, 2020

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas.

Colombino M et al.

Journal of Clinical Medicine, 2019

Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Dos Santos W et al.

Scientific Reports, 2019

Atypical BRAF and NRAS Mutations in Mucosal Melanoma.

Dumaz N et al.

Cancers, 2019

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

Lokhandwala PM et al.

Bmc Cancer, 2019

Hybrid Capture-Based Genomic Profiling Identifies BRAF V600 and Non-V600 Alterations in Melanoma Samples Negative by Prior Testing.

Boussemart L et al.

The Oncologist, 2019

Non-invasive monitoring of diffuse large B-cell lymphoma by cell-free DNA high-throughput targeted sequencing: analysis of a prospective cohort.

Bohers E et al.

Blood Cancer Journal, 2018

30069017 (PubMed )
Supplement: 41408_2018_111_MOESM2_ESM.pdf

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

BRAF in Lung Cancers: Analysis of Patient Cases Reveals Recurrent BRAF Mutations, Fusions, Kinase Duplications, and Concurrent Alterations.

Sheikine Y 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."