ArticleOncotarget2015
Whole exome sequencing identifies a recurrent RQCD1 P131L mutation in cutaneous melanoma.
Article in Oncotarget, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- The CCR4-NOT complex: a multifaceted sensor of molecular signals instructing eukaryotic mRNA translation and stability.Nucleic acids research · 2025Review
- Roles of the CCR4-Not complex in translation and dynamics of co-translation events.Wiley interdisciplinary reviews. RNA · 2023Review
- Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.The Journal of pathology · 2023Article
- Decision Support System and Web-Application Using Supervised Machine Learning Algorithms for Easy Cancer Classifications.Cancer informatics · 2023Article
- Structure and function of molecular machines involved in deadenylation-dependent 5'-3' mRNA degradation.Frontiers in genetics · 2023Review
- Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes.Cancer discovery · 2022Article
- Genetic Profiling of Malignant Melanoma Arising from an Ovarian Mature Cystic Teratoma: A Case Report.International journal of molecular sciences · 2021Article
- Targeting regulatory T cells for immunotherapy in melanoma.Molecular biomedicine · 2021Review
- Multi-omic analysis reveals significantly mutated genes and DDX3X as a sex-specific tumor suppressor in cutaneous melanoma.Nature cancer · 2020Article
- Non-BRAF Mutant Melanoma: Molecular Features and Therapeutical Implications.Frontiers in molecular biosciences · 2020Review
- 1-Hydroxy-xanthine derivatives inhibit the human Caf1 nuclease and Caf1-containing nuclease complexes via MgFEBS open bio · 2019Article
- Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells.Medical sciences (Basel, Switzerland) · 2017Review
- Article
- Precision medicine driven by cancer systems biology.Cancer metastasis reviews · 2017Article
- Neoantigen Targeting-Dawn of a New Era in Cancer Immunotherapy?Frontiers in immunology · 2017Review
- Deletions of the long arm of chromosome 5 define subgroups of T-cell acute lymphoblastic leukemia.Haematologica · 2016Article
- Chemoradiation Increases PD-L1 Expression in Certain Melanoma and Glioblastoma Cells.Frontiers in immunology · 2016Article
- The promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders.Omics : a journal of integrative biology · 2015Review
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Melanoma is often caused by mutations due to exposure to ultraviolet radiation. This study reports a recurrent somatic C > T change causing a P131L mutation in the RQCD1 (Required for Cell Differentiation1 Homolog) gene identified through whole exome sequencing of 20 metastatic melanomas. Screening in 715 additional primary melanomas revealed a prevalence of ~4%. This represents the first reported recurrent mutation in a member of the CCR4-NOT complex in cancer. Compared to tumors without the mutation, the P131L mutant positive tumors were associated with increased thickness (p = 0.02), head and neck (p = 0.009) and upper limb (p = 0.03) location, lentigo maligna melanoma subtype (p = 0.02) and BRAF V600K (p = 0.04) but not V600E or NRAS codon 61 mutations. There was no association with nodal disease (p = 0.3). Mutually exclusive mutations of other members of the CCR4-NOT complex were found in ~20% of the TCGA melanoma dataset suggesting the complex may play an important role in melanoma biology. Mutant RQCD1 was predicted to bind strongly to HLA-A0201 and HLA-Cw3 MHC1 complexes. From thirteen patients with mutant RQCD1, an anti-tumor CD8⁺ T cell response was observed from a single patient's peripheral blood mononuclear cell population stimulated with mutated peptide compared to wildtype indicating a neoantigen may be formed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.