ArticlePloS one2013
Comprehensive genomic characterization of cutaneous malignant melanoma cell lines derived from metastatic lesions by whole-exome sequencing and SNP array profiling.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 34 citations in OpenAlex.
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- Expression of lymphoid structure-associated cytokine/chemokine gene transcripts in tumor and protein in serum are prognostic of melanoma patient outcomes.Frontiers in immunology · 2023Article
- Mitochondrial DNA methylation is a predictor of immunotherapy response and prognosis in breast cancer: scRNA-seq and bulk-seq data insights.Frontiers in immunology · 2023Article
- Reaction Mechanism of Human PAICS Elucidated by Quantum Chemical Calculations.Journal of the American Chemical Society · 2022Article
- BRN2 is a non-canonical melanoma tumor-suppressor.Nature communications · 2021Article
- Mutation and Copy Number Alterations Analysis of KIF23 in Glioma.Frontiers in genetics · 2021Article
- Association ofFrontiers in oncology · 2021Article
- Crystal structures of human PAICS reveal substrate and product binding of an emerging cancer target.The Journal of biological chemistry · 2020Article
- Identification of critical radioresistance genes in esophageal squamous cell carcinoma by whole-exome sequencing.Annals of translational medicine · 2020Article
- Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma.BMC medical genomics · 2020Article
- Alternative RNA Splicing as a Potential Major Source of Untapped Molecular Targets in Precision Oncology and Cancer Disparities.Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Article
- Exploration of the diagnostic value and molecular mechanism of miR‑1 in prostate cancer: A study based on meta‑analyses and bioinformatics.Molecular medicine reports · 2018Article
- Knockdown of PAICS inhibits malignant proliferation of human breast cancer cell lines.Biological research · 2018Article
- LncRNAs as an intermediate in HPV16 promoting myeloid-derived suppressor cell recruitment of head and neck squamous cell carcinoma.Oncotarget · 2017Article
- Article
- Mutation analysis and copy number alterations ofOncoTargets and therapy · 2017Article
- Comparison of cytotoxicity between extracts of Clinacanthus nutans (Burm. f.) Lindau leaves from different locations and the induction of apoptosis by the crude methanol leaf extract in D24 human melanoma cells.BMC complementary and alternative medicine · 2016Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cutaneous malignant melanoma is the most fatal skin cancer and although improved comprehension of its pathogenic pathways allowed to realize some effective molecular targeted therapies, novel targets and drugs are still needed. Aiming to add genetic information potentially useful for novel targets discovery, we performed an extensive genomic characterization by whole-exome sequencing and SNP array profiling of six cutaneous melanoma cell lines derived from metastatic patients. We obtained a total of 3,325 novel coding single nucleotide variants, including 2,172 non-synonymous variants. We catalogued the coding mutations according to Sanger COSMIC database and to a manually curated list including genes involved in melanoma pathways identified by mining recent literature. Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we identified novel mutated genes involved in signalling pathways crucial for melanoma pathogenesis and already addressed by current targeted therapies (such as MAPK and glutamate pathways). We also identified mutations in four genes (MUC19, PAICS, RBMXL1, KIF23) never reported in melanoma, which might deserve further investigations. All data are available to the entire research community in our Melanoma Exome Database (at https://155.253.6.64/MExDB/). In summary, these cell lines are valuable biological tools to improve the genetic comprehension of this complex cancer disease and to study functional relevance of individual mutational events, and these findings could provide insights potentially useful for identification of novel therapeutic targets for cutaneous malignant melanoma.
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