ArticleNature genetics2015
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 211 papers.
What it found
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Who cites it
211 citing papers in PubMed.
- COLUMBUS 5-Year Update: A Randomized, Open-Label, Phase III Trial of Encorafenib Plus Binimetinib Versus Vemurafenib or Encorafenib in Patients WithJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Trial
- Identifying treatment options for BRAFV600 wild-type metastatic melanoma: A SU2C/MRA genomics-enabled clinical trial.PloS one · 2021Trial
- Risk of melanocytic nevi and nonmelanoma skin cancer in children after allogeneic hematopoietic stem cell transplantation.Bone marrow transplantation · 2017Trial
- Molecular pathology in the diagnosis of cutaneous melanoma.Pathologie (Heidelberg, Germany) · 2026Review
- Genetic landscape of stage II melanoma identifies CBL as a new driver gene and prognostic biomarker.British journal of cancer · 2026Article
- mTOR inhibition enhances the antitumor efficacy of pan-RAF-MEK blockade by inhibiting the ATF4-MTHFD2 pathway.Cell death & disease · 2026Article
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- Prevalence of SPOP and IDH Gene Mutations in Prostate Cancer in a Jordanian Population.Biochemical genetics · 2025Article
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- Antagonistic stem cell fates under stress govern decisions between hair greying and melanoma.Nature cell biology · 2025Article
- Molecular Basis of BRAF Inhibitor Resistance in Melanoma: A Systematic Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Role of non-coding RNAs in human-papillomavirus-associated cutaneous neoplasms.Archives of virology · 2025Review
- Cutaneous melanoma.Nature reviews. Disease primers · 2025Review
- FAK inhibition combined with the RAF-MEK clamp avutometinib overcomes resistance to targeted and immune therapies in BRAF V600E melanoma.Cancer cell · 2025Article
- [WHO classification of melanocytic tumours].Dermatologie (Heidelberg, Germany) · 2025Review
- Landscape of TET2 Mutations: From Hematological Malignancies to Solid Tumors.Cancer medicine · 2025Review
- AnInternational journal of molecular sciences · 2025Article
- Loss of NF1 Accelerates Uveal and Intradermal Melanoma Tumorigenesis, and Oncogenic GNAQ Transforms Schwann Cells.Cancer research communications · 2025Article
- Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.Skin health and disease · 2024Article
- Melanoma genomics - will we go beyond BRAF in clinics?Journal of cancer research and clinical oncology · 2024Review
151 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
20 authors.
Funding
Abstract
We report on whole-exome sequencing (WES) of 213 melanomas. Our analysis established NF1, encoding a negative regulator of RAS, as the third most frequently mutated gene in melanoma, after BRAF and NRAS. Inactivating NF1 mutations were present in 46% of melanomas expressing wild-type BRAF and RAS, occurred in older patients and showed a distinct pattern of co-mutation with other RASopathy genes, particularly RASA2. Functional studies showed that NF1 suppression led to increased RAS activation in most, but not all, melanoma cases. In addition, loss of NF1 did not predict sensitivity to MEK or ERK inhibitors. The rebound pathway, as seen by the induction of phosphorylated MEK, occurred in cells both sensitive and resistant to the studied drugs. We conclude that NF1 is a key tumor suppressor lost in melanomas, and that concurrent RASopathy gene mutations may enhance its role in melanomagenesis.
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