ArticleOncotarget2014
Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer.
Article in Oncotarget, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- A systematic review of skin ageing genes: gene pleiotropy and genes on the chromosomal band 16q24.3 may drive skin ageing.Scientific reports · 2022Pooled it
- Novel nomogram and decision curve analysis for predicting head and neck skin cancer risk.Scientific reports · 2025Article
- CanCellCap: robust cancer cell capture across tissue types on single-cell RNA-seq data by multi-domain learning.BMC biology · 2025Article
- Review
- P16-CD8-Ki67 Triple Algorithm for Prediction of CDKN2A Mutations in Patients with Multiple Primary and Familial Melanoma.Diagnostics (Basel, Switzerland) · 2024Article
- UnravelingFrontiers in oncology · 2024Review
- TAP1, a potential immune-related prognosis biomarker with functional significance in uveal melanoma.BMC cancer · 2023Article
- TP53 and its Regulatory Genes as Prognosis of Cutaneous Melanoma.Cancer informatics · 2023Article
- Mortality of Malignant Melanoma in Central Serbia, in the Period 1999-2015.Dermatology practical & conceptual · 2023Article
- Risk of Migraine in Europeans with Low Melanin Levels-A Population Based Case-Control Study.Brain sciences · 2022Article
- REPS1 as a Potential Biomarker in Alzheimer's Disease and Vascular Dementia.Frontiers in aging neuroscience · 2022Article
- DNA Repair and Immune Response Pathways Are Deregulated in Melanocyte-Keratinocyte Co-cultures Derived From the Healthy Skin of Familial Melanoma Patients.Frontiers in medicine · 2021Article
- Gene signature based on B cell predicts clinical outcome of radiotherapy and immunotherapy for patients with lung adenocarcinoma.Cancer medicine · 2020Article
- The Genetic Germline Background of Single and Multiple Primary Melanomas.Frontiers in molecular biosciences · 2020Article
- Bcl-xScientific reports · 2019Article
- Loss of INK4a/Arf gene enhances ultraviolet radiation-induced cutaneous tumor development.Experimental dermatology · 2017Article
- Integrated expression profiles analysis reveals novel predictive biomarker in pancreatic ductal adenocarcinoma.Oncotarget · 2017Article
- The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.Molecular neurobiology · 2017Article
- Heterogeneity in cancer cells: variation in drug response in different primary and secondary colorectal cancer cell lines in vitro.In vitro cellular & developmental biology. Animal · 2017Article
- Red hair,Annals of clinical and translational neurology · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 1 country.
Funding
Abstract
Germline mutations in CDKN2A and/or red hair color variants in MC1R genes are associated with an increased susceptibility to develop cutaneous melanoma or non melanoma skin cancer. We studied the impact of the CDKN2A germinal mutation p.G101W and MC1R variants on gene expression and transcription profiles associated with skin cancer. To this end we set-up primary skin cell co-cultures from siblings of melanoma prone-families that were later analyzed using the expression array approach. As a result, we found that 1535 transcripts were deregulated in CDKN2A mutated cells, with over-expression of immunity-related genes (HLA-DPB1, CLEC2B, IFI44, IFI44L, IFI27, IFIT1, IFIT2, SP110 and IFNK) and down-regulation of genes playing a role in the Notch signaling pathway. 3570 transcripts were deregulated in MC1R variant carriers. In particular, genes related to oxidative stress and DNA damage pathways were up-regulated as well as genes associated with neurodegenerative diseases such as Parkinson's, Alzheimer and Huntington. Finally, we observed that the expression signatures indentified in phenotypically normal cells carrying CDKN2A mutations or MC1R variants are maintained in skin cancer tumors (melanoma and squamous cell carcinoma). These results indicate that transcriptome deregulation represents an early event critical for skin cancer development.
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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.