ArticleBMC cancer2017
Validation of an NGS mutation detection panel for melanoma.
Article in BMC cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 45 citations in OpenAlex.
- Clinical and Radiometabolic Correlatives of ddPCR Liquid Biopsy for BRAF V600 Mutated Melanoma.International journal of cancer · 2026Article
- Dental DNA Mutations Occurring after Death: A Novel Method for Post-Mortem Interval (PMI) Estimation.International journal of molecular sciences · 2024Article
- An Automated Real-Time PCR Assay versus Next-Generation Sequencing in the Detection ofDiagnostics (Basel, Switzerland) · 2024Article
- Oestrogen receptor positive breast cancer and its embedded mechanism: breast cancer resistance to conventional drugs and related therapies, a review.Open biology · 2024Review
- BRAFCancer cell international · 2023Article
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research.Life (Basel, Switzerland) · 2022Review
- Dental DNA as an Indicator of Post-Mortem Interval (PMI): A Pilot Research.International journal of molecular sciences · 2022Article
- Article
- Small Choroidal Melanoma: Correlation between Clinical Characteristics and Metastatic Potential.Ocular oncology and pathology · 2021Article
- Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.International journal of molecular sciences · 2021Article
- Molecular Profiling of Merkel Cell Polyomavirus-Associated Merkel Cell Carcinoma and Cutaneous Melanoma.Diagnostics (Basel, Switzerland) · 2021Article
- Primary tumor characteristics and next-generation sequencing mutations as biomarkers for melanoma immunotherapy response.Pigment cell & melanoma research · 2020Article
- Article
- Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.BMC cancer · 2020Article
- Association of epigenetics of the PDK4 gene in skeletal muscle and peripheral blood with exercise therapy following artificial knee arthroplasty.Journal of physiological anthropology · 2020Article
- In Situ Profiling of the Three Dominant Phyla Within the Human Gut Using TaqMan PCR for Pre-Hospital Diagnosis of Gut Dysbiosis.International journal of molecular sciences · 2020Article
- Genetic Profiling of Advanced Melanoma: Candidate Mutations for Predicting Sensitivity and Resistance to Targeted Therapy.Targeted oncology · 2020Article
- The Current State of Molecular Testing in the BRAF-Mutated Melanoma Landscape.Frontiers in molecular biosciences · 2020Review
- Implementation of an NGS panel for clinical practice in paraffin-embedded tissue samples from locally advanced and metastatic melanoma patients.Exploration of targeted anti-tumor therapy · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKnowledge of the genotype of melanoma is important to guide patient management. Identification of mutations in BRAF and c-KIT lead directly to targeted treatment, but it is also helpful to know if there are driver oncogene mutations in NRAS, GNAQ or GNA11 as these patients may benefit from alternative strategies such as immunotherapy.
methodsWhile polymerase chain reaction (PCR) methods are often used to detect BRAF mutations, next generation sequencing (NGS) is able to determine all of the necessary information on several genes at once, with potential advantages in turnaround time. We describe here an Ampliseq hotspot panel for melanoma for use with the IonTorrent Personal Genome Machine (PGM) which covers the mutations currently of most clinical interest.
resultsWe have validated this in 151 cases of skin and uveal melanoma from our files, and correlated the data with PCR based assessment of BRAF status. There was excellent agreement, with few discrepancies, though NGS does have greater coverage and picks up some mutations that would be missed by PCR. However, these are often rare and of unknown significance for treatment.
conclusionsPCR methods are rapid, less time-consuming and less expensive than NGS, and could be used as triage for patients requiring more extensive diagnostic workup. The NGS panel described here is suitable for clinical use with formalin-fixed paraffin-embedded (FFPE) samples.
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