Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.V600delins
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BRAF

NM_004333.6:p.V600delins

Associated Papers

"Pathway Leap": A New Molecular Phenomenon to Consider in the Pathogenesis of Melanocytic Tumors.

Fernandez-Flores A

The American Journal of Dermatopathology, 2025

Spontaneous Necrosis of a High-Risk Bladder Tumor Under Immunotherapy for Concurrent Malignant Melanoma: Role of BRAF Mutations and PD-L1 Expression.

Condoiu C et al.

Biomedicines, 2025

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

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

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

Dudin O et al.

Journal of Skin Cancer, 2024

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

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

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

C677T and A1298C MTHFR gene polymorphisms and response to fluoropyrimidine-based chemotherapy in Mestizo patients with metastatic colorectal cancer.

Ramos-Esquivel A et al.

Pharmacogenetics and Genomics, 2021

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

Molecular Profiling of Merkel Cell Polyomavirus-Associated Merkel Cell Carcinoma and Cutaneous Melanoma.

Mokánszki A et al.

Diagnostics (basel, Switzerland), 2021

Evaluation of KRAS, NRAS and BRAF mutational status and microsatellite instability in early colorectal carcinomas invading the submucosa (pT1): towards an in-house molecular prognostication for pathologists?

Bourhis A et al.

Journal of Clinical Pathology, 2020

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

Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours.

Bombac A et al.

International Journal of Oncology, 2020

32236636 (PubMed )
Supplement: Supplementary_Data.pdf

Rapid BRAF Mutation Testing in Pigmented Melanomas.

Petty DR et al.

The American Journal of Dermatopathology, 2020

A Rare Complex BRAF Mutation Involving Codon V600 and K601 in Primary Cutaneous Melanoma: Case Report.

Consoli F et al.

Frontiers in Oncology, 2020

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

Contextual role of E2F1 in suppression of melanoma cell motility and invasiveness.

Meng P et al.

Molecular Carcinogenesis, 2019

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Manca A et al.

Journal of Translational Medicine, 2019

31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Discovery_cohort_nsyn_variants

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

Lokhandwala PM et al.

Bmc Cancer, 2019

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

Clinical performance evaluation of the Idylla NRAS-BRAF mutation test on retrospectively collected formalin-fixed paraffin-embedded colorectal cancer tissue.

Johnston L et al.

Journal of Clinical Pathology, 2018

Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.

Bruno W et al.

Oncotarget, 2018

Evaluation of a Rapid, Fully Automated Platform for Detection of BRAF and NRAS Mutations in Melanoma.

Barel F et al.

Acta Dermato-venereologica, 2018

The BRAF and NRAS mutation prevalence in dermoscopic subtypes of acquired naevi reveals constitutive mitogen-activated protein kinase pathway activation.

Tan JM et al.

The British Journal of Dermatology, 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

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

28881731 (PubMed )
Supplement: oncotarget-08-52304-s002.xlsx › Sheet1

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

Mesbah Ardakani N et al.

Pigment Cell & Melanoma Research, 2017

Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry.

Bruno W et al.

Oncotarget, 2017

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

Mikhailenko DS et al.

Bulletin of Experimental Biology and Medicine, 2017

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

Competitive allele-specific TaqMan PCR (Cast-PCR) is a sensitive, specific and fast method for BRAF V600 mutation detection in Melanoma patients.

Barbano R et al.

Scientific Reports, 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

Molecular alterations in clinical stage III cutaneous melanoma: Correlation with clinicopathological features and patient outcome.

Rutkowski P et al.

Oncology Letters, 2014

BRAF pyrosequencing analysis aided by a lookup table.

Olson MT et al.

American Journal of Clinical Pathology, 2014

A multiplex technology platform for the rapid analysis of clinically actionable genetic alterations and validation for BRAF p.V600E detection in 1549 cytologic and histologic specimens.

Smith DL et al.

Archives of Pathology & Laboratory Medicine, 2014

Improved molecular classification of serrated lesions of the colon by immunohistochemical detection of BRAF V600E.

Mesteri I et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2014

Update on Molecular Pathology of Cutaneous Melanocytic Lesions: What is New in Diagnosis and Molecular Testing for Treatment?

van Engen-van Grunsven AC et al.

Frontiers in Medicine, 2014

Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants.

Hocker T et al.

Human Mutation, 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."