ArticleHereditary cancer in clinical practice2014
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.
Article in Hereditary cancer in clinical practice, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04533555 (Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer), which is not on this map. Cited by 37 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.
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.
Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer
Who cites it
37 citing papers in PubMed, 61 citations in OpenAlex.
- Article
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.International journal of molecular sciences · 2025Article
- Multiple outcomes of the germline p16Aging cell · 2025Article
- Exploring the Common Mutational Landscape in Cutaneous Melanoma and Pancreatic Cancer.Pigment cell & melanoma research · 2025Review
- CDKN2A and matrix metalloproteinases: key regulators of cellular senescence in squamous cell carcinoma.American journal of translational research · 2025Article
- Article
- High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.Journal of the European Academy of Dermatology and Venereology : JEADV · 2023Article
- Connecting the dots: Melanoma cell of origin, tumor cell plasticity, trans-differentiation, and drug resistance.Pigment cell & melanoma research · 2023Review
- Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.Cancers · 2023Article
- Population-based analysis ofJournal of medical genetics · 2023Article
- Review
- The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.Frontiers in oncology · 2023Article
- Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.Human molecular genetics · 2022Article
- Study on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex.Asian Pacific journal of cancer prevention : APJCP · 2021Article
- Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.Journal of clinical medicine · 2021Review
- FRAMe: Familial Risk Assessment of Melanoma-a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma.Familial cancer · 2021Article
- Efficacy of BRAF and MEK Inhibition in Patients with BRAF-Mutant Advanced Melanoma and Germline CDKN2A Pathogenic Variants.Cancers · 2021Article
- CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.Hereditary cancer in clinical practice · 2021Review
Corrections and comments
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Authors and funding
32 authors at 11 institutions in 4 countries.
Funding
Abstract
backgroundMutations in the CDKN2A and CDK4 genes predispose to melanoma. From three case-control studies of cutaneous melanoma, we estimated the prevalence and predictors of these mutations for people from regions with widely differing latitudes and melanoma incidence.
methodsPopulation-based cases and controls from the United Kingdom (1586 cases, 499 controls) and Australia (596 early-onset cases, 476 controls), and a hospital-based series from Spain (747 cases, 109 controls), were screened for variants in all exons of CDKN2A and the p16INK4A binding domain of CDK4.
resultsThe prevalence of mutations for people with melanoma was similar across regions: 2.3%, 2.5% and 2.0% for Australia, Spain and the United Kingdom respectively. The strongest predictors of carrying a mutation were having multiple primaries (odds ratio (OR) = 5.4, 95% confidence interval (CI: 2.5, 11.6) for 2 primaries and OR = 32.4 (95% CI: 14.7, 71.2) for 3 or more compared with 1 primary only); and family history (OR = 3.8; 95% CI:1.89, 7.5) for 1 affected first- or second-degree relative and OR = 23.2 (95% CI: 11.3, 47.6) for 2 or more compared with no affected relatives). Only 1.1% of melanoma cases with neither a family history nor multiple primaries had mutations.
conclusionsThere is a low probability (<2%) of detecting a germline CDKN2A mutation in people with melanoma except for those with a strong family history of melanoma (≥2 affected relatives, 25%), three or more primary melanomas (29%), or more than one primary melanoma who also have other affected relatives (27%).
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