ArticleScientific reports2017
Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
39 citing papers in PubMed.
- Genetic diversity in melanomagenesis: a comprehensive analysis of BRAF, NRAS, KIT and novel mutations across melanoma subtypes.BMC cancer · 2025Article
- Sinonasal Mucosal Melanoma: A Comprehensive Review and Clinical Experience.Journal of rhinology : official journal of the Korean Rhinologic Society · 2025Review
- Melanoma genomics - will we go beyond BRAF in clinics?Journal of cancer research and clinical oncology · 2024Review
- Molecularly matched targeted therapy: a promising approach for refractory metastatic melanoma.The oncologist · 2024Article
- Article
- Applications of Innovation Technologies for Personalized Cancer Medicine: Stem Cells and Gene-Editing Tools.ACS pharmacology & translational science · 2023Review
- Article
- Plasma Methylated DNA Markers for Melanoma Surveillance.JCO precision oncology · 2023Article
- Leptomeningeal Metastases in Melanoma Patients: An Update on and Future Perspectives for Diagnosis and Treatment.International journal of molecular sciences · 2023Review
- Experimental Models for Rare Melanoma Research-The Niche That Needs to Be Addressed.Bioengineering (Basel, Switzerland) · 2023Review
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Circulating cell-free messenger RNA enables non-invasive pan-tumour monitoring of melanoma therapy independent of the mutational genotype.Clinical and translational medicine · 2022Article
- Article
- The Yin and Yang of ERBB4: Tumor Suppressor and Oncoprotein.Pharmacological reviews · 2022Review
- Ulcerated Cutaneous Melanoma: A Review of the Clinical, Histologic, and Molecular Features Associated with a Clinically Aggressive Histologic Phenotype.Clinical, cosmetic and investigational dermatology · 2022Review
- Mutational Characterization of Cutaneous Melanoma Supports Divergent Pathways Model for Melanoma Development.Cancers · 2021Article
- Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.International journal of molecular sciences · 2021Article
- BRAF Gene and Melanoma: Back to the Future.International journal of molecular sciences · 2021Review
- A Melanoma-Tailored Next-Generation Sequencing Panel Coupled with a Comprehensive Analysis to Improve Routine Melanoma Genotyping.Targeted oncology · 2020Article
- Primary tumor characteristics and next-generation sequencing mutations as biomarkers for melanoma immunotherapy response.Pigment cell & melanoma research · 2020Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molecular diagnostics are increasingly performed routinely in the diagnosis and management of patients with melanoma due to the development of novel therapies that target specific genetic mutations. The development of next-generation sequencing (NGS) technologies has enabled to sequence multiple cancer-driving genes in a single assay, with improved sensitivity in mutation detection. The main objective of this study was the design and implementation of a melanoma-specific sequencing panel, and the identification of the spectrum of somatic mutations in a series of primary melanoma samples. A custom panel was designed to cover the coding regions of 35 melanoma-related genes. Panel average coverage was 2,575.5 reads per amplicon, with 92,8% of targeted bases covered ≥500×. Deep coverage enabled sensitive discovery of mutations in as low as 0.5% mutant allele frequency. Eighty-five percent (85/100) of the melanomas had at least one somatic mutation. The most prevalent mutated genes were BRAF (50%;50/199), NRAS (15%;15/100), PREX2 (14%;14/100), GRIN2A (13%;13/100), and ERBB4 (12%;12/100). Turn-around-time and costs for NGS-based analysis was reduced in comparison to conventional molecular approaches. The results of this study demonstrate the cost-effectiveness and feasibility of a custom-designed targeted NGS panel, and suggest the implementation of targeted NGS into daily routine practice.
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