ArticleJournal of medical genetics2011
Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.
Article in Journal of medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 45 citations in OpenAlex.
- Natural History of Rare Tumor Risk Syndromes: A Scoping Review to Inform Cost-Effectiveness Models.Journal of health economics and outcomes research · 2026Article
- Familial melanoma: genetic, clinical, and dermoscopic insights and follow-up.Frontiers in medicine · 2026Review
- Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.Pigment cell & melanoma research · 2025Article
- An Unexpected Case of Somatic Mosaicism of the Dutch p16-Case reports in genetics · 2025Article
- 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
- Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.Cancers · 2023Article
- The MC1R r allele does not increase melanoma risk in MITF E318K carriers.The British journal of dermatology · 2023Article
- Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma.PloS one · 2022Article
- Considerations for Germline Testing in Melanoma: Updates in Behavioral Change and Pancreatic Surveillance for Carriers ofFrontiers in oncology · 2022Review
- 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
- Priority of Risk (But Not Perceived Magnitude of Risk) Predicts Improved Sun-Protection Behavior Following Genetic Counseling for Familial Melanoma.Annals of behavioral medicine : a publication of the Society of Behavioral Medicine · 2021Article
- The Future of Precision Prevention for Advanced Melanoma.Frontiers in medicine · 2021Article
- Melanoma Risk and Melanocyte Biology.Acta dermato-venereologica · 2020Review
- Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example.Hereditary cancer in clinical practice · 2020Article
- Risks of Melanoma and Other Cancers in Melanoma-Prone Families over 4 Decades.The Journal of investigative dermatology · 2018Observational
- Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.Journal of the American Academy of Dermatology · 2016Review
- Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.Hereditary cancer in clinical practice · 2014Article
- Risk of non-melanoma cancers in first-degree relatives of CDKN2A mutation carriers.Journal of the National Cancer Institute · 2012Article
- Genetics of melanoma.Frontiers in genetics · 2012Article
Corrections and comments
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Authors and funding
26 authors at 8 institutions in 2 countries.
Funding
Abstract
backgroundCDKN2A mutations confer a substantial risk of cutaneous melanoma; however, the magnitude of risk is uncertain.
methodsThe study estimated the hazard ratio (HR) and the average age specific cumulative risk (ie, penetrance) of reported melanoma for CDKN2A mutation carriers in case families using a modified segregation analysis of the first and higher degree relatives of 35 population-based cases. The study sample included 223 relatives of 13 melanoma cases diagnosed when aged 18-39 years from Melbourne, Sydney and Brisbane, Australia, and 322 relatives of 22 melanoma cases diagnosed at any age from Yorkshire, UK.
resultsThe estimated HR for melanoma for mutation carriers relative to the general population decreased with regions of increasing ambient ultraviolet (UV) irradiance, being higher for the UK than Australia (87, 95% CI 50 to 153 vs 31, 95% CI 20 to 50, p=0.008), and across Australia, 49 (95% CI 24 to 98) for Melbourne, 44 (95% CI 22 to 88) for Sydney, and 9 (95% CI 2 to 33) for Brisbane (p=0.02). Penetrance did not differ by geographic region. It is estimated that 16% (95% CI 10% to 27%) of UK and 20% (95% CI 13% to 30%) of Australian CDKN2A mutation carriers would be diagnosed with melanoma by age 50 years, and 45% (95% CI 29% to 65%) and 52% (95% CI 37% to 69%), respectively, by age 80 years.
conclusionsContrary to the strong association between UV radiation exposure and melanoma risk for the general population, CDKN2A mutation carriers appear to have the same cumulative risk of melanoma irrespective of the ambient UV irradiance of the region in which they live.
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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.