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1.	Walpole, S, et al. (author) Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide 2018 In: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 110:12, s. 1328-1341 Journal article (peer-reviewed)
2.	Davies, JR, et al. (author) Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study 2012 In: Pigment cell & melanoma research. - 1755-148X. ; 25:3, s. 384-394 Journal article (peer-reviewed)
3.	Dube, U, et al. (author) Overlapping genetic architecture between Parkinson disease and melanoma 2020 In: Acta neuropathologica. - : Springer Science and Business Media LLC. - 1432-0533 .- 0001-6322. ; 139:2, s. 347-364 Journal article (peer-reviewed)
4.	Duffy, DL, et al. (author) Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways 2019 In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 299- Journal article (peer-reviewed)abstract The original version of this Article contained errors in the spelling of the authors Fan Liu and M. Arfan Ikram, which were incorrectly given as Fan Lui and Arfan M. Ikram. In addition, the original version of this Article also contained errors in the author affiliations which are detailed in the associated Publisher Correction.
5.	Law, MH, et al. (author) Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma 2015 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:9, s. 987- Journal article (peer-reviewed)
6.	Astiazaran-Symonds, E, et al. (author) Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer 2022 In: JCO precision oncology. - 2473-4284. ; 6, s. e2200145- Journal article (peer-reviewed)
7.	Astiazaran-Symonds, E, et al. (author) Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer 2022 In: JCO precision oncology. - 2473-4284. ; 6, s. e2200145- Journal article (peer-reviewed)
8.	Dalmasso, B, et al. (author) Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia 2021 In: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 23:11, s. 2087-2095 Journal article (peer-reviewed)
9.	Helgadottir, H., et al. (author) Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations 2020 In: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 57:5, s. 316-321 Journal article (peer-reviewed)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.
10.	Helgadottir, H, et al. (author) Efficacy of novel melanoma treatments in metastatic melanoma patients with germline CDKN2A mutations 2019 In: JOURNAL OF TRANSLATIONAL MEDICINE. - 1479-5876. ; 17 Conference paper (other academic/artistic)

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Result 1-10 of 13

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Type of publication: journal article (11); conference paper (2)

Type of content: peer-reviewed (11); other academic/artistic (2)

Author/Editor: Puig, S (13); van Doorn, R (13)Undo refine; Ghiorzo, P (13); Hoiom, V (10); Helgadottir, H (8); Queirolo, P (8); show more...; Landi, MT (7); Goldstein, AM (7); Hayward, NK (6); Pastorino, L (6); Harland, M (6); Kanetsky, PA (6); Gruis, NA (6); Hansson, J. (5); Molven, A (5); Elder, DE (5); Bishop, DT (5); Helsing, P (5); Potrony, M (5); Andresen, PA (5); Randerson-Moor, J (5); Barrett, JH (5); Friedman, E. (4); Kumar, R. (4); Amos, CI (4); Montgomery, GW (4); Martin, NG (4); Dunning, AM (4); Lubinski, J (4); Pooley, KA (4); Lang, J. (4); Akslen, LA (4); Gillanders, EM (4); Lee, JE (4); MacGregor, S (4); Ingvar, C (4); Bruno, W (4); Demenais, F (4); Mann, GJ (4); Hočevar, M. (4); Azizi, E (4); Debniak, T (4); Brown, KM (4); Whiteman, DC (4); Stratigos, AJ (4); Radford-Smith, GL (4); Dalmasso, B (4); Brossard, M (4); Iles, MM (4); Law, MH (4); show less...

University: Karolinska Institutet (13); Lund University (3); University of Gothenburg (1)

Language: English (13)

Research subject (UKÄ/SCB): Medical and Health Sciences (3)

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