ArticleJournal of medical genetics2006
Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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.
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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, 64 citations in OpenAlex.
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- Disruption of CTCF binding by germline non-coding variants inmedRxiv : the preprint server for health sciences · 2026Article
- Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.Familial cancer · 2025Review
- Screening and novel diagnostic technologies for melanoma: an update.Melanoma management · 2025Review
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- Cutaneous Melanoma and Glioblastoma Multiforme Association-Case Presentation and Literature Review.Diagnostics (Basel, Switzerland) · 2023Article
- Effects of Carbon Nanomaterials andPharmaceutics · 2022Review
- Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period.Scientific reports · 2021Article
- CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.Hereditary cancer in clinical practice · 2021Review
- Identifying predictors of HPV-related head and neck squamous cell carcinoma progression and survival through patient-derived models.International journal of cancer · 2020Article
- Genetic Alterations in the INK4a/ARF Locus: Effects on Melanoma Development and Progression.Biomolecules · 2020Review
- Germline mutations predisposing to melanoma.Journal of cutaneous pathology · 2020Review
- Distinct Transcriptional Changes and Epithelial-Stromal Interactions Are Altered in Early-Stage Colon Cancer Development.Molecular cancer research : MCR · 2016Article
- Germline hemizygous deletion ofNPJ genomic medicine · 2016Article
- Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?Cancer biology & therapy · 2016Article
- Article
- A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.BMC medical genetics · 2014Article
- Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene.Molecular vision · 2014Article
- Melanoma: from melanocyte to genetic alterations and clinical options.Scientifica · 2013Review
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 3 countries.
Funding
Abstract
objectiveComprehensive analysis of the 9p21 locus including the CDKN2A, ARF, and CDKN2B genes in 53 individuals from melanoma index cases considered to be at heightened risk of melanoma. METHODS AND
resultsUsing a combination of DNA sequencing, gene copy number by real time quantitative PCR, linkage analysis, and transcript analysis in haploid somatic cell hybrids, we found no evidence for germline alteration in either coding or non-coding domains of CDKN2A and CDKN2B. However, we identified a p14ARF exon 1beta missense germline mutation (G16D) in a melanoma-neural system tumour syndrome (CMM+NST) family and a 8474 bp germline deletion from 196 bp upstream of p14ARF exon 1beta initiation codon to 11233 bp upstream of exon 1alpha of p16(INK4A) in a family with five melanoma cases. For three out of 10 families with at least three melanoma cases, the disease gene was unlinked to the 9p21 region, while linkage analysis was not fully conclusive for seven families.
conclusionsThese data reinforce the hypothesis that ARF is a melanoma susceptibility gene and suggest that germline deletions specifically affecting p14ARF may not be solely responsible for NST susceptibility. Predisposition to CMM+NST could either be due to complete disruption of the CDKN2A locus or be the result of more complex genetic inheritance. In addition, the absence of any genetic alteration in 50 melanoma prone families or patients suggests the presence of additional tumour suppressor genes possibly in the 9p21 region, and on other chromosomes.
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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.