ArticleOncogene2005
A mutation hotspot at the p14ARF splice site.
Article in Oncogene, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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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
17 citing papers in PubMed, 73 citations in OpenAlex.
- Mechanisms of TP53 Pathway Inactivation in Embryonic and Somatic Cells-Relevance for Understanding (Germ Cell) Tumorigenesis.International journal of molecular sciences · 2021Review
- CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.Hereditary cancer in clinical practice · 2021Review
- The Short N-Terminal Repeats of Transcription Termination Factor 1 Contain Semi-Redundant Nucleolar Localization Signals and P19-ARF Tumor Suppressor Binding Sites.The Yale journal of biology and medicine · 2019Article
- The Roles of p53 in Mitochondrial Dynamics and Cancer Metabolism: The Pendulum between Survival and Death in Breast Cancer?Cancers · 2018Review
- Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?Cancer biology & therapy · 2016Article
- Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.PloS one · 2015Article
- Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.Human mutation · 2013Article
- Melanoma: from mutations to medicine.Genes & development · 2012Review
- Selective requirement of H2B N-Terminal tail for p14ARF-induced chromatin silencing.Nucleic acids research · 2011Article
- Compensatory signals associated with the activation of human GC 5' splice sites.Nucleic acids research · 2011Article
- A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds.The Journal of investigative dermatology · 2011Article
- Genetic determinants of cutaneous melanoma predisposition.Seminars in cutaneous medicine and surgery · 2010Review
- Management of melanoma families.Cancers · 2010Article
- Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.BMC medical genetics · 2008Article
- Frequent p16-independent inactivation of p14ARF in human melanoma.Journal of the National Cancer Institute · 2008Article
- A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).European journal of cancer (Oxford, England : 1990) · 2008Article
- Aberrant Expression of p14Tumor & microenvironmentArticle
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 5 institutions in 3 countries.
Funding
Abstract
Germline mutations of CDKN2A that affect the p16INK4a transcript have been identified in numerous melanoma pedigrees worldwide. In the UK, over 50% of pedigrees with three or more cases of melanoma have been found to carry mutations of CDKN2A. Mutations that affect p14ARF exon 1beta exclusively are very rare. This has led to the suggestion that it is p16INK4a and not p14ARF that plays the critical role in melanoma predisposition. We report the identification of a cluster of five different germline mutations at the p14ARF exon 1beta splice donor site in melanoma pedigrees. All the five splice site variants showed evidence of being causal mutations. Three of the variants were demonstrated to result in aberrant splicing of the p14ARF mRNA, confirming their role in melanoma predisposition. No other point mutations were identified in the coding region of p14ARF. The p14ARF transcript of CDKN2A is clearly important in disease predisposition in a subset of melanoma pedigrees. Curiously, the only mutations so far reported to affect p14ARF exon 1beta exclusively have been knockout mutations. Further investigation into the spectrum of mutations observed in this gene may help clarify the exact role of p14ARF in melanoma predisposition.
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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.