{"doi":"10.1111/jdv.18589","title":"Melanoma‐specific survival before and after inclusion in a familial melanoma dermatologic surveillance program in <scp><i>CDKN2A</i></scp> mutation carriers and non‐carriers","abstract":"<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Inherited mutations in the <jats:italic>CDKN2A</jats:italic> gene are among the strongest known risk factors for cutaneous melanoma. Further, previous studies have reported inferior melanoma‐specific survival in <jats:italic>CDKN2A</jats:italic> mutation carriers.</jats:p></jats:sec><jats:sec><jats:title>Objectives</jats:title><jats:p>Here, the melanoma‐specific survival was studied, depending on <jats:italic>CDKN2A</jats:italic> carrier status and if the melanomas had been diagnosed before or after families were included in a surveillance program.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Melanoma‐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, <jats:italic>CDKN2A</jats:italic> mutation (MUT) carriers with first invasive melanoma before or after inclusion [<jats:italic>MUT‐pre</jats:italic> (<jats:italic>n</jats:italic> = 53) and <jats:italic>MUT‐post</jats:italic> (<jats:italic>n</jats:italic> = 43)] and likewise in <jats:italic>CDKN2A</jats:italic> wild type (WT) cases [<jats:italic>WT‐pre</jats:italic> (<jats:italic>n</jats:italic> = 255) and <jats:italic>WT‐post</jats:italic> (<jats:italic>n</jats:italic> = 122)].</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The <jats:italic>MUT‐pre</jats:italic> and <jats:italic>MUT‐post</jats:italic> cases were diagnosed with their first invasive melanoma at a significantly younger ages (38 and 42 years, respectively) than the <jats:italic>WT‐pre</jats:italic> and <jats:italic>WT‐post</jats:italic> cases (48 and 57 years, respectively). The melanomas in the <jats:italic>MUT‐pre</jats:italic> had significantly higher T stage compared with <jats:italic>MUT‐post</jats:italic> (<jats:italic>p</jats:italic> = 0.006), whereas no such difference was seen comparing <jats:italic>WT‐pre</jats:italic> with <jats:italic>WT‐post</jats:italic> (<jats:italic>p</jats:italic> = 0.849). <jats:italic>MUT‐pre</jats:italic> had compared with <jats:italic>WT‐pre</jats:italic>, significantly worse melanoma‐specific survival, unadjusted (HR 2.33, 95% CI 1.33–4.08, <jats:italic>p</jats:italic> = 0.003) adjusted (HR 2.70, 95% CI 1.46–5.00, <jats:italic>p</jats:italic> = 0.001). However, the <jats:italic>MUT‐post</jats:italic> cases had compared with the <jats:italic>WT‐post</jats:italic> cases, no significant survival differences.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>This study is the first to address the impact on survival from introducing a dermatologic surveillance program to familial melanoma cases with or without <jats:italic>CDKN2A</jats:italic> mutations. The <jats:italic>CDKN2A</jats:italic>‐mut carriers appeared to have a clear benefit with less advanced melanomas diagnosed and better melanoma‐specific survival after inclusion. Among the <jats:italic>CDKN2A</jats:italic>‐wt cases, the effect of the inclusion on the studied outcomes was less evident.</jats:p></jats:sec>","journal":"Journal of the European Academy of Dermatology and Venereology","year":2023,"id":648445,"datarank":0.6545104647720583,"base_score":2.4849066497880004,"endowment":2.4849066497880004,"self_citation_contribution":0.37273599746820013,"citation_network_contribution":0.28177446730385824,"self_endowment_contribution":0.37273599746820013,"citer_contribution":0.28177446730385824,"corpus_percentile":null,"corpus_rank":null,"citation_count":11,"citer_count":9,"citers_with_citation_signal":5,"citers_with_endowment":5,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1203835,"name":"Jan Lapins","orcid":"0000-0002-0882-8959","position":1,"is_corresponding":false},{"id":1689962,"name":"Christina Sköldmark","orcid":null,"position":2,"is_corresponding":false},{"id":1438085,"name":"Hildur Helgadóttir","orcid":"0000-0002-0735-4771","position":3,"is_corresponding":false},{"id":1689956,"name":"Maria Pissa","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Melanoma‐specific survival before and after inclusion in a familial melanoma dermatologic surveillance program in <scp><i>CDKN2A</i></scp> mutation carriers and non‐carriers","abstract":"<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Inherited mutations in the <jats:italic>CDKN2A</jats:italic> gene are among the strongest known risk factors for cutaneous melanoma. Further, previous studies have reported inferior melanoma‐specific survival in <jats:italic>CDKN2A</jats:italic> mutation carriers.</jats:p></jats:sec><jats:sec><jats:title>Objectives</jats:title><jats:p>Here, the melanoma‐specific survival was studied, depending on <jats:italic>CDKN2A</jats:italic> carrier status and if the melanomas had been diagnosed before or after families were included in a surveillance program.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Melanoma‐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, <jats:italic>CDKN2A</jats:italic> mutation (MUT) carriers with first invasive melanoma before or after inclusion [<jats:italic>MUT‐pre</jats:italic> (<jats:italic>n</jats:italic> = 53) and <jats:italic>MUT‐post</jats:italic> (<jats:italic>n</jats:italic> = 43)] and likewise in <jats:italic>CDKN2A</jats:italic> wild type (WT) cases [<jats:italic>WT‐pre</jats:italic> (<jats:italic>n</jats:italic> = 255) and <jats:italic>WT‐post</jats:italic> (<jats:italic>n</jats:italic> = 122)].</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The <jats:italic>MUT‐pre</jats:italic> and <jats:italic>MUT‐post</jats:italic> cases were diagnosed with their first invasive melanoma at a significantly younger ages (38 and 42 years, respectively) than the <jats:italic>WT‐pre</jats:italic> and <jats:italic>WT‐post</jats:italic> cases (48 and 57 years, respectively). The melanomas in the <jats:italic>MUT‐pre</jats:italic> had significantly higher T stage compared with <jats:italic>MUT‐post</jats:italic> (<jats:italic>p</jats:italic> = 0.006), whereas no such difference was seen comparing <jats:italic>WT‐pre</jats:italic> with <jats:italic>WT‐post</jats:italic> (<jats:italic>p</jats:italic> = 0.849). <jats:italic>MUT‐pre</jats:italic> had compared with <jats:italic>WT‐pre</jats:italic>, significantly worse melanoma‐specific survival, unadjusted (HR 2.33, 95% CI 1.33–4.08, <jats:italic>p</jats:italic> = 0.003) adjusted (HR 2.70, 95% CI 1.46–5.00, <jats:italic>p</jats:italic> = 0.001). However, the <jats:italic>MUT‐post</jats:italic> cases had compared with the <jats:italic>WT‐post</jats:italic> cases, no significant survival differences.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>This study is the first to address the impact on survival from introducing a dermatologic surveillance program to familial melanoma cases with or without <jats:italic>CDKN2A</jats:italic> mutations. The <jats:italic>CDKN2A</jats:italic>‐mut carriers appeared to have a clear benefit with less advanced melanomas diagnosed and better melanoma‐specific survival after inclusion. Among the <jats:italic>CDKN2A</jats:italic>‐wt cases, the effect of the inclusion on the studied outcomes was less evident.</jats:p></jats:sec>","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"19162232","pmcid":null,"openalex_id":null,"authors":[],"funders":[{"funder_name":"Cancerfonden","grant_id":"21 1486 Pj","title":null},{"funder_name":"Cancerfonden","grant_id":"20 0156 F","title":null},{"funder_name":"Radiumhemmets Forskningsfonder","grant_id":"194092","title":null},{"funder_name":"Stockholms Läns Landsting","grant_id":"20200638","title":null},{"funder_name":"Swedish Cancer Society","grant_id":"unidentified","title":"unidentified"}],"total_grants":5,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"hybrid","license":"cc-by-nc","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/jdv.18589","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.18589","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/full-xml/10.1111/jdv.18589","host_type":"publisher"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10091727/pdf/JDV-37-284.pdf","host_type":"repository"},{"url":"https://doi.org/10.1111/jdv.18589","host_type":""},{"url":"https://pubmed.ncbi.nlm.nih.gov/36156317","host_type":""},{"url":"http://dx.doi.org/10.1111/jdv.18589","host_type":""}],"fields_of_study":["03 medical and health sciences","0302 clinical medicine"],"mesh_terms":[],"keywords":["Adult","Skin Neoplasms","Cutaneous Malignant Melanoma","Original Articles and Short Reports","Mutation","Humans","Genetic Predisposition to Disease","Melanoma","Cyclin-Dependent Kinase Inhibitor p16","Germ-Line Mutation"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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