ArticleThe Journal of molecular diagnostics : JMD2013
Frequency and spectrum of BRAF mutations in a retrospective, single-institution study of 1112 cases of melanoma.
Article in The Journal of molecular diagnostics : JMD, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 papers.
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Who cites it
117 citing papers in PubMed.
- Hepatic intra-arterial versus intravenous fotemustine in patients with liver metastases from uveal melanoma (EORTC 18021): a multicentric randomized trial.Annals of oncology : official journal of the European Society for Medical Oncology · 2014Trial
- Unveiling BRAF Mutations in Non-small Cell Lung Cancer: State of the Art and Future Perspectives.Lung · 2026Review
- Association BetweenDiseases (Basel, Switzerland) · 2026Article
- Acyclic Retinoid Attenuates STAT3 Signaling and Reduces In Vitro Growth of A375-Derived Dabrafenib Plus Trametinib-Resistant Melanoma Cells.International journal of molecular sciences · 2026Article
- Development of a Nomogram to Predict Therapeutic Resistance in Metastatic Melanoma Using Longitudinal ctDNA Kinetics.Molecular diagnosis & therapy · 2026Article
- Perioperative immunotherapy for advanced resectable melanoma: a cost-effectiveness analysis.BMC health services research · 2026Article
- An evaluation of pathology foundation models with weakly supervised learning for BRAF mutation prediction in melanoma whole slide images.Frontiers in medical technology · 2026Article
- MYC as a key target for melanoma therapy.Frontiers in cell and developmental biology · 2026Review
- Recombinant RGD-Apoptins Decrease Human Melanoma Cell Viability.International journal of molecular sciences · 2025Article
- A comparative transcriptomic analysis at single-cell resolution reveals acral melanoma features distinct from cutaneous melanoma.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2025Article
- Oncogenic Signalling Pathways in Cancer Immunotherapy: Leader or Follower in This Delicate Dance?International journal of molecular sciences · 2025Review
- Loss of Lkb1 cooperates with BrafMolecular oncology · 2025Article
- Clinical Effectiveness and Cost-Effectiveness of Multigene Panel Sequencing in Advanced Melanoma: A Population-Level Real-World Target Trial Emulation.JCO precision oncology · 2025Article
- Somatic gene variation profiles in geriatric and adult malignant melanoma patients.Frontiers in oncology · 2025Article
- Melanoma Management: Exploring Staging, Prognosis, and Treatment Innovations.International journal of molecular sciences · 2024Review
- Article
- Recent advancements in the diagnosis and treatment of acral melanoma.Journal of Zhejiang University. Science. B · 2024Review
- Harnessing immunotherapy for brain metastases: insights into tumor-brain microenvironment interactions and emerging treatment modalities.Journal of hematology & oncology · 2023Review
- Connecting the dots: Melanoma cell of origin, tumor cell plasticity, trans-differentiation, and drug resistance.Pigment cell & melanoma research · 2023Review
- Immunotherapy: an emerging modality to checkmate brain metastasis.Molecular cancer · 2023Review
57 more citing papers are in PubMed but not listed here.
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11 authors.
Funding
Abstract
The US Food and Drug Administration (FDA) approved vemurafenib to treat patients with metastatic melanoma harboring the BRAF c.1799T>A (p.V600E) mutation. However, a subset of melanomas harbor non-p.V600E BRAF mutations, and these data are of potential importance regarding the efficacy of current targeted therapies. To better understand the BRAF mutation profile in melanomas, we retrospectively analyzed data from 1112 primary and metastatic melanomas at our institution. The cohort included nonacral cutaneous (n = 774), acral (n = 111), mucosal (n = 26), uveal (n = 23), leptomeningeal (n = 1), and metastatic melanomas of unknown primary site (n = 177). BRAF mutation hotspot regions in exons 11 and 15 were analyzed by pyrosequencing or with the primer extension MassARRAY system. A total of 499 (44.9%) specimens exhibited BRAF mutations, involving exon 15 [497 (99.6%)] or exon 11 [2 (0.4%)]. p.V600E was detected in 376 (75.4%) cases; the remaining 123 (24.6%) cases exhibited non-p.V600E mutations, of which p.V600K was most frequent [86 (17.2%)]. BRAF mutations were more frequent in nonacral cutaneous (51.4%) than acral melanomas [18 (16.2%)] (P < 0.001); however, there was no significant difference among cutaneous histological subtypes. All mucosal, uveal, and leptomeningeal melanomas were BRAF wild type (WT). The high frequency of non-p.V600E BRAF mutations in melanoma has important implications because the FDA-approved companion diagnostic test for p.V600E detects some but not all non-p.V600E mutations. However, the therapeutic efficacy of vemurafenib is not well established in these lesions.
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