ArticleJournal of the European Academy of Dermatology and Venereology : JEADV2023
Melanoma-specific survival before and after inclusion in a familial melanoma dermatologic surveillance program in CDKN2A mutation carriers and non-carriers.
Article in Journal of the European Academy of Dermatology and Venereology : JEADV, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 9 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
- Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant.Molecular genetics & genomic medicine · 2025Article
- CDKN2A Mutation: A Patient's and Physician's Experience.Dermatology and therapy · 2025Article
- Assessment of RAS-RAF-MAPK Pathway Mutation Status in Healthy Skin, Benign Nevi, and Cutaneous Melanomas: Pilot Study Using Droplet Digital PCR.International journal of molecular sciences · 2024Article
- High frequency of melanoma inTheranostics · 2024Article
- Surveillance, CDKN2A and survival of familial melanoma.Journal of the European Academy of Dermatology and Venereology : JEADV · 2023Article
- Melanoma-specific survival before and after inclusion in a familial melanoma dermatologic surveillance program in CDKN2A mutation carriers and non-carriers.Journal of the European Academy of Dermatology and Venereology : JEADV · 2023Article
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4 authors at 2 institutions in 1 country.
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Abstract
backgroundInherited mutations in the CDKN2A gene are among the strongest known risk factors for cutaneous melanoma. Further, previous studies have reported inferior melanoma-specific survival in CDKN2A mutation carriers.
objectivesHere, the melanoma-specific survival was studied, depending on CDKN2A carrier status and if the melanomas had been diagnosed before or after families were included in a surveillance program.
methodsMelanoma-prone families participating in this study were identified through a nationwide preventive program starting in 1987. Information on melanoma tumours and deaths was obtained through the Swedish Cancer Registry and Cause of Death Registry. Kaplan-Meier and Cox proportional hazards regression models were used to assess melanoma-specific survival in four defined cohorts, CDKN2A mutation (MUT) carriers with first invasive melanoma before or after inclusion [MUT-pre (n = 53) and MUT-post (n = 43)] and likewise in CDKN2A wild type (WT) cases [WT-pre (n = 255) and WT-post (n = 122)].
resultsThe MUT-pre and MUT-post cases were diagnosed with their first invasive melanoma at a significantly younger ages (38 and 42 years, respectively) than the WT-pre and WT-post cases (48 and 57 years, respectively). The melanomas in the MUT-pre had significantly higher T stage compared with MUT-post (p = 0.006), whereas no such difference was seen comparing WT-pre with WT-post (p = 0.849). MUT-pre had compared with WT-pre, significantly worse melanoma-specific survival, unadjusted (HR 2.33, 95% CI 1.33-4.08, p = 0.003) adjusted (HR 2.70, 95% CI 1.46-5.00, p = 0.001). However, the MUT-post cases had compared with the WT-post cases, no significant survival differences.
conclusionThis study is the first to address the impact on survival from introducing a dermatologic surveillance program to familial melanoma cases with or without CDKN2A mutations. The CDKN2A-mut carriers appeared to have a clear benefit with less advanced melanomas diagnosed and better melanoma-specific survival after inclusion. Among the CDKN2A-wt cases, the effect of the inclusion on the studied outcomes was less evident.
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