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BIOMARKER:

BRAF amplification

i
Other names: BRAF, B-raf proto-oncogene, B-raf proto-oncogene, Serine/threonine kinase, V-Raf murine sarcoma viral oncogene homolog B, Serine/threonine-protein kinase B-Raf, Proto-oncogene B-Raf, BRAF1, RAFB1, B-raf proto-oncogene Serine/threonine-protein kinase, Murine sarcoma viral (V-Raf) oncogene homolog B1, B-raf serine/threonine-protein, 94 KDa B-raf protein, B-RAF1
Entrez ID:
1year
Tissue-based Next Generation Sequencing (NGS) for Patients with Advanced Solid Tumors: the experience of Verona University Hospital (AIOM 2024)
Our study provides an example of implementation of molecular profiling in an academic pre-screening program. Further analysis will investigate treatment matching rates, drug access schemes, and their impact on treatment efficacy and survival.
Clinical • Next-generation sequencing • BRCA Biomarker • Metastases
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ER (Estrogen receptor) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1)
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BRAF V600E • KRAS mutation • BRCA2 mutation • BRCA1 mutation • EGFR mutation • KRAS G12C • HER-2 amplification • PIK3CA mutation • BRAF V600 • NTRK1 fusion • PTEN mutation • KIT mutation • FGFR2 mutation • RET mutation • MET mutation • KRAS G12 • ESR1 mutation • NTRK1 mutation • BRAF amplification
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FoundationOne® CDx • TruSight Oncology 500 Assay
1year
The potential role of next-generation sequencing in identifying MET amplification and disclosing resistance mechanisms in NSCLC patients with osimertinib resistance. (PubMed, Front Oncol)
The known resistance mechanisms, including MET amplification, EGFR (C797S, L718Q/R), TP53, CDK4, CDK6, CDKN2A, BRAF, KRAS, NRAS and PIK3CA mutations were also disclosed in our cohort. NGS assay can achieve a high concordance with FISH in MET amplification detection and has advantages in portraying various genetic alterations, which is of worthy in clinical promotion.
Journal • Next-generation sequencing
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NRG1 (Neuregulin 1) • CDK4 (Cyclin-dependent kinase 4) • CDK6 (Cyclin-dependent kinase 6) • CYP3A4 (Cytochrome P450, family 3, subfamily A, polypeptide 4)
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TP53 mutation • EGFR mutation • BRAF mutation • NRAS mutation • PIK3CA mutation • MET amplification • EGFR T790M • EGFR C797S • EGFR L718Q • BRAF amplification • EGFR C797S + MET amplification
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Tagrisso (osimertinib)
over1year
The Importance of Sub-Typing: A Rare Case of Asymptomatic Intestinal Type Periampullary Carcinoma (ACG 2024)
Further research and awareness is necessary to highlight the different types of ampullary cancer given the significant clinical implications. Figure: Image 1: (A) Endoscopic imaging of ampullary mass (B) EUS depicting ampullary mass
Clinical
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • FGFR2 (Fibroblast growth factor receptor 2) • CDX2 (Caudal Type Homeobox 2)
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TP53 mutation • EGFR mutation • BRAF mutation • FGFR2 mutation • FGFR2 amplification • BRAF amplification
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Guardant360® CDx
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5-fluorouracil
over1year
Analysis of Uncommon EGFR Exon 19 Alterations Identified by Liquid Biopsy in Advanced Non-Small Cell Lung Cancer (NSCLC) (IASLC-WCLC 2024)
Conclusions : To our knowledge, this is the largest liquid biopsy analysis comparing common/uncommon ex19dels in NSCLC and shows similar genomic findings across groups. Further work should be done to explore additional genomic and non-genomic factors to aid in patient selection for EGFR TKIs for uncommon findings.
Liquid biopsy • Metastases • Biopsy
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • FGFR2 (Fibroblast growth factor receptor 2)
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EGFR exon 19 deletion • MET amplification • EGFR T790M • FGFR2 fusion • EGFR C797S • EGFR G724S • EGFR L747_A750delinsP • BRAF amplification • EGFR L747_P753delinsS
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Guardant360® CDx
over1year
Mechanisms of resistance to selpercatinib in RET activated NSCLC and MTC from the LIBRETTO-001 trial (ESMO 2024)
P1/2 | "Acquired MoR was identified in 45% of liquid biopsies in the largest prospective dataset studying MoR to RET inhibition. On-target MoR including RET SF G810 muts were more common in MTC than NSCLC. Bypass MoR (30%) included RAS/RAF activating and potentially targetable MET amps."
BRAF (B-raf proto-oncogene) • MET (MET proto-oncogene, receptor tyrosine kinase) • RET (Ret Proto-Oncogene)
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MET amplification • RET mutation • BRAF amplification • RET V804*
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Guardant360® CDx
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Retevmo (selpercatinib)
over1year
RAS/RAF mutations and microsatellite instability status in primary colorectal cancers according to HER2 amplification. (PubMed, Sci Rep)
No BRAF and NRAS mutations were identified in HER2 amplified CRCs. Our study suggests that HER2 amplified CRCs are mutually exclusive of MSI and harbor less frequent KRAS/NRAS/BRAF mutations but frequent T53 mutations.
Journal • Microsatellite instability
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • RAS (Rat Sarcoma Virus)
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TP53 mutation • KRAS mutation • BRAF mutation • HER-2 amplification • NRAS mutation • RAS mutation • NRAS mutation + BRAF mutation • BRAF amplification
over1year
Exploring the Relationship Between KRAS, NRAS, and BRAF Mutations and Clinical Characteristics in Iranian Colorectal Cancer Patients. (PubMed, J Gastrointest Cancer)
The study's findings indicate a rising frequency of mutations in these genes in Iran, highlighting the need to screening mutations in the main exons of all three genes for effective colorectal cancer treatment strategies.
Journal
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
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KRAS mutation • BRAF mutation • NRAS mutation • KRAS G12D • KRAS G12 • NRAS Q61 • KRAS Q61H • KRAS exon 2 mutation • NRAS G12D • BRAF amplification • BRAF exon 15 mutation
over1year
Safety and Efficacy Study of SAR442720 in Combination With Other Agents in Advanced Malignancies (clinicaltrials.gov)
P1/2, N=65, Terminated, Sanofi | Active, not recruiting --> Terminated; Sponsor's decision not related to any safety concern
Trial termination • Combination therapy • Metastases
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1)
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KRAS mutation • KRAS G12C • BRAF mutation • NF1 mutation • KRAS G12 • BRAF amplification
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Keytruda (pembrolizumab) • Krazati (adagrasib) • vociprotafib (RMC-4630)
over1year
Clinical genomic profiling of malignant giant cell tumor of bone: A retrospective analysis using a real‑world database. (PubMed, Med Int (Lond))
These two fusion genes may be detected in resembling tumors, which contain giant cells, apart from malignant GCTB. The real-world data used herein provide a unique perspective on genomic alterations in clinicopathologically diagnosed malignant GCTB.
Retrospective data • Journal • Real-world evidence • Real-world
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • CCNE1 (Cyclin E1) • NRF1 (Nuclear Respiratory Factor 1) • H3-3A (H3.3 Histone A)
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ALK fusion • BRAF fusion • BRAF amplification
almost2years
Adult epithelioid glioblastoma exhibits an extremely poor prognosis and high frequency of SWI/SNF complex mutation: Insights from a retrospective study. (PubMed, Int J Cancer)
Adult eGBM carried a dismal prognosis compared to GBM with IDH and H3 wild-type (typical GBM) (OS: 13.89 vs 24.30 months; P = .003) and even typical GBM without MGMT promoter methylation (OS: 13.89 vs 22.08 months; P = .036). Based on these findings, it can be concluded that adult eGBM harbors a high frequency of the 7+/10- signature and alterations in the MAPK pathway, SWI/SNF complex and cyclin-related genes and portends an extremely poor prognosis.
Retrospective data • Journal
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BRAF (B-raf proto-oncogene) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ARID1B (AT-Rich Interaction Domain 1B)
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BRAF V600E • BRAF V600 • CDKN2A deletion • MGMT promoter methylation • CDK4 amplification • TERT mutation • ARID1B mutation • TERT promoter mutation • BRAF amplification
almost2years
Safety and Efficacy Study of SAR442720 in Combination With Other Agents in Advanced Malignancies (clinicaltrials.gov)
P1/2, N=65, Active, not recruiting, Sanofi | Trial completion date: Jul 2024 --> Mar 2024 | Trial primary completion date: Jul 2024 --> Mar 2024
Trial completion date • Trial primary completion date • Combination therapy • Metastases
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1)
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KRAS mutation • KRAS G12C • BRAF mutation • NF1 mutation • KRAS G12 • BRAF amplification
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Keytruda (pembrolizumab) • Krazati (adagrasib) • vociprotafib (RMC-4630)
almost2years
Clinicopathological analysis of BRAF and non-BRAF MAPK pathway-altered gliomas in paediatric and adult patients: a single-institution study of 40 patients. (PubMed, J Clin Pathol)
The study provided insights into MAPK-altered gliomas in Kuwait highlighting the differences among paediatric and adult patients and providing a framework for planning therapeutic polices.
Journal
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BRAF (B-raf proto-oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR1 (Fibroblast growth factor receptor 1) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • NF1 (Neurofibromin 1) • KIAA1549 • KANK1 (KN Motif And Ankyrin Repeat Domains 1) • TACC1 (Transforming Acidic Coiled-Coil Containing Protein 1)
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BRAF V600E • NTRK2 fusion • NF1 mutation • ROS1 fusion • KIAA1549-BRAF fusion • BRAF fusion • FGFR1 fusion • BRAF amplification