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http://hdl.handle.net/2445/173023
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DC Field | Value | Language |
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dc.contributor.author | Helgadottir, Hildur | - |
dc.contributor.author | Ghiorzo, Paola | - |
dc.contributor.author | van Doorn, Remco | - |
dc.contributor.author | Puig i Sardà, Susana | - |
dc.contributor.author | Levin, Max | - |
dc.contributor.author | Kefford, Richard | - |
dc.contributor.author | Lauss, Martin | - |
dc.contributor.author | Queirolo, Paola | - |
dc.contributor.author | Pastorino, Lorenza | - |
dc.contributor.author | Kapiteijn, Ellen | - |
dc.contributor.author | Potrony Mateu, Míriam | - |
dc.contributor.author | Carrera Álvarez, Cristina | - |
dc.contributor.author | Olsson, Håkan | - |
dc.contributor.author | Höiom, Veronica | - |
dc.contributor.author | Jönsson, Göran | - |
dc.date.accessioned | 2021-01-08T14:39:59Z | - |
dc.date.available | 2021-01-08T14:39:59Z | - |
dc.date.issued | 2020 | - |
dc.identifier.issn | 0022-2593 | - |
dc.identifier.uri | http://hdl.handle.net/2445/173023 | - |
dc.description.abstract | Background: Inherited CDKN2A mutation is a strong risk factor for cutaneous melanoma. Moreover, carriers have been found to have poor melanoma-specific survival. In this study, responses to novel immunotherapy agents in CDKN2A mutation carriers with metastatic melanoma were evaluated. Methods: CDKN2A mutation carriers that have developed metastatic melanoma and undergone immunotherapy treatments were identified among carriers enrolled in follow-up studies for familial melanoma. The carriers' responses were compared with responses reported in phase III clinical trials for CTLA-4 and PD-1 inhibitors. From publicly available data sets, melanomas with somatic CDKN2A mutation were analysed for association with tumour mutational load. Results: Eleven of 19 carriers (58%) responded to the therapy, a significantly higher frequency than observed in clinical trials (p=0.03, binomial test against an expected rate of 37%). Further, 6 of the 19 carriers (32%) had complete response, a significantly higher frequency than observed in clinical trials (p=0.01, binomial test against an expected rate of 7%). In 118 melanomas with somatic CDKN2A mutations, significantly higher total numbers of mutations were observed compared with 761 melanomas without CDKN2A mutation (Wilcoxon test, p<0.001). Conclusion: Patients with CDKN2A mutated melanoma may have improved immunotherapy responses due to increased tumour mutational load, resulting in more neoantigens and stronger antitumorous immune responses. | - |
dc.format.extent | 6 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | BMJ Publishing Group | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1136/jmedgenet-2018-105610 | - |
dc.relation.ispartof | Journal of Medical Genetics, 2020, vol. 57, num. 5, p. 316-321 | - |
dc.relation.uri | https://doi.org/10.1136/jmedgenet-2018-105610 | - |
dc.rights | cc by-nc (c) Helgadottir et al., 2020 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/3.0/es | - |
dc.source | Articles publicats en revistes (Medicina) | - |
dc.subject.classification | Melanoma | - |
dc.subject.classification | Metàstasi | - |
dc.subject.classification | Immunoteràpia | - |
dc.subject.other | Melanoma | - |
dc.subject.other | Metastasis | - |
dc.subject.other | Immunotheraphy | - |
dc.title | Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 688463 | - |
dc.date.updated | 2021-01-08T14:39:59Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 30291219 | - |
Appears in Collections: | Articles publicats en revistes (Medicina) |
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688463.pdf | 362.77 kB | Adobe PDF | View/Open |
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