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GENE:

BRAF (B-raf proto-oncogene)

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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
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Programmed cell death ligand 1 in correlation with BRAFV600E mutation, molecular characteristics and biological behavior in ameloblastoma. (PubMed, Front Immunol)
PD-L1 expression is frequently observed in AM with BRAFV600E mutation, whereas no significant correlation is identified between PD-L1 and the clinicopathological parameters associated with AM. Within the limitation of relatively short follow-up duration, high CD8+T cell infiltration was indicated to be potentially correlated with favorable DFS in AM patients, which needs further verification in cohorts with longer follow-up.
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • BRAF (B-raf proto-oncogene) • CD8 (cluster of differentiation 8) • FOXP3 (Forkhead Box P3)
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PD-L1 expression • BRAF V600E • BRAF V600
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Nanopore-based DNA methylation profiling for rapid molecular classification of NOS/NEC CNS tumors: multi-institutional evaluation using FFPE archives and frozen tissues. (PubMed, Acta Neuropathol Commun)
Nanopore sequencing enables rapid, accurate, multidimensional molecular classification of diagnostically intractable CNS tumors using routine FFPE and frozen tissue, achieving high diagnostic resolution in comparison with reference methods while drastically reducing turnaround time and cost, making precision neuropathology feasible beyond quaternary centers.
Journal
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • NF1 (Neurofibromin 1)
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BRAF V600E • BRAF V600
1m
CRITⅡ: SCRT + Chemo Targeted Immuno-neoadjuvant Therapy for High-risk pMMR/MSS RC (clinicaltrials.gov)
P3, N=204, Recruiting, Sixth Affiliated Hospital, Sun Yat-sen University | Not yet recruiting --> Recruiting
Enrollment open • IO biomarker • pMMR
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BRAF (B-raf proto-oncogene)
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Avastin (bevacizumab) • Erbitux (cetuximab) • 5-fluorouracil • oxaliplatin • leucovorin calcium
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Anti-Hu-Associated Paraneoplastic Myeloneuropathy as the Initial Presentation of Early-Onset Colon Adenocarcinoma. (PubMed, ACG Case Rep J)
Postoperative circulating tumor DNA was negative, and the patient was placed on active surveillance; however, neurological symptoms persisted, and immunomodulatory therapy access was initially limited. This case highlights a rare association between anti-Hu-associated myeloneuropathy and early-onset colon cancer and underscores the importance of malignancy evaluation in unexplained sensory neuronopathy.
Journal
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BRAF (B-raf proto-oncogene) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase)
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MSI-H/dMMR
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Thyroid cancer and double-strand DNA break repair: The potential role of the MRN complex pathogenic variants. (PubMed, J Clin Transl Endocrinol)
We describe a patient with radioactive iodine-refractory, metastatic oncocytic thyroid carcinoma with an NBN gene (c.2166_2167delGCinsAT) pathogenic variant, who developed progressive disease despite receiving systemic therapy with lenvatinib and pembrolizumab. A mutual exclusivity analysis demonstrated a tendency for pathogenic variants in one MRN complex genes to co-occur with pathogenic variants in the other two MRN complex genes. In conclusion, the MRN complex pathogenic variants could be potentially oncogenic in TCs and may be linked to aggressive forms of TC.
Review • Journal • PD(L)-1 Biomarker
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BRAF (B-raf proto-oncogene) • RAD50 (RAD50 Double Strand Break Repair Protein) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
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Keytruda (pembrolizumab) • Lenvima (lenvatinib)
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NCI-2018-01211: Intravenous and Intrathecal Nivolumab in Treating Patients With Leptomeningeal Disease (clinicaltrials.gov)
P1, N=75, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting
Enrollment closed
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BRAF (B-raf proto-oncogene) • IL2 (Interleukin 2)
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Opdivo (nivolumab)
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Superficial serrated adenoma: a clinicopathological analysis of ten cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
Understanding its histological features and immunohistochemical profile facilitates its diagnosis and differential diagnosis, including CK20 positivity and Ki-67 negativity in the superficial layer, and high Ki-67 expression with negative CK20 staining in the deep layer. KRAS gene mutation is also an important diagnostic feature.
Journal
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PMS2 (PMS1 protein homolog 2) • KRT20 (Keratin 20)
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KRAS mutation • BRAF mutation
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A Trial of Pembrolizumab and Metformin Versus Pembrolizumab Alone in Advanced Melanoma (clinicaltrials.gov)
P1, N=23, Active, not recruiting, Yana Najjar | Recruiting --> Active, not recruiting
Enrollment closed
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BRAF (B-raf proto-oncogene)
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Keytruda (pembrolizumab) • metformin
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The Impact of BRAF Mutational Status on Survival in Melanoma Patients: Single Centre Experience. (PubMed, Acta Dermatovenerol Croat)
However, in patients with BRAF-mutated melanomas, those who received BRAF inhibitors exhibited improved survival outcomes in advanced disease stages (p = 0.0025). Our study indicates that BRAF-mutated melanoma patients with distant metastases receiving BRAF inhibitors have significantly improved survival compared to those not receiving targeted therapy, supporting the clinical benefit of BRAF inhibitor use in appropriately selected patients.
Retrospective data • Journal
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BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog)
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BRAF V600E • BRAF mutation • NRAS mutation • BRAF V600 • BRAF wild-type
1m
A Cancer Vaccine (Labvax 3(22)-23) and GM-CSF Alone or in Combination With Pembrolizumab for the Treatment of Advanced Stage Adenocarcinoma (clinicaltrials.gov)
P1/2, N=77, Suspended, University of California, Davis | Trial completion date: Jan 2030 --> Jan 2034 | Recruiting --> Suspended | Trial primary completion date: Jan 2026 --> Dec 2030
Trial completion date • Trial suspension • Trial primary completion date
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK (Neurotrophic receptor tyrosine kinase)
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BRAF mutation • MET mutation
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Keytruda (pembrolizumab) • Labvax 3(22)-23 • Leukine (sargramostim)
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Melanoma Arising in Blue Nevus: A Case Report Demonstrating the Primary Site in Disseminated Disease. (PubMed, Cureus)
Melanoma arising in a blue nevus represents an aggressive neoplasm, highlighting the importance of early biopsy and multidisciplinary evaluation. The application of immunohistochemistry and molecular profiling in atypical presentations that mimic other neoplasms represents a valuable tool for diagnosis, prognosis, and treatment planning in rare melanoma subtypes.
Journal
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BRAF (B-raf proto-oncogene) • GNAQ (G Protein Subunit Alpha Q)
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BRAF mutation
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Relationship between MLH1, MSH2, MSH6, and PMS2 protein expression status and clinicopathological characteristics in colorectal cancer tissues. (PubMed, Front Med (Lausanne))
These findings support the value of routine IHC-based MMR testing in CRC patients. However, confirmatory molecular testing (e.g., MSI analysis, BRAF V600E mutation, MLH1 promoter methylation, or germline sequencing) is necessary to differentiate sporadic from Lynch syndrome-associated dMMR cases and to fully guide Lynch syndrome screening and immunotherapy decisions.
Journal • IO biomarker
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BRAF (B-raf proto-oncogene) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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BRAF V600E • MSI-H/dMMR • BRAF V600