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Träfflista för sökning "WFRF:(Ghiorzo P) ;pers:(van Doorn R);pers:(Dalmasso B)"

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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.	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)
3.	Spagnolo, F, et al. (author) BRAF and MEK inhibition in CDKN2A germline carriers and BRAF mutant melanoma 2020 In: ANNALS OF ONCOLOGY. - : Elsevier BV. - 0923-7534. ; 31, s. S759-S759 Conference paper (other academic/artistic)
4.	Spagnolo, F, et al. (author) Efficacy of BRAF and MEK Inhibition in Patients with BRAF-Mutant Advanced Melanoma and Germline CDKN2A Pathogenic Variants 2021 In: Cancers. - : MDPI AG. - 2072-6694. ; 13:10 Journal article (peer-reviewed)abstract Inherited pathogenic variants (PVs) in the CDKN2A tumor suppressor gene are among the strongest risk factors for cutaneous melanoma. Dysregulation of the p16/RB1 pathway may intrinsically limit the activity of MAPK-directed therapy due to the interplay between the two pathways. In our study, we assessed, for the first time, whether patients with germline CDKN2A PVs achieve suboptimal results with BRAF inhibitors (BRAFi)+/−MEK inhibitors (MEKi). We compared the response rate of nineteen CDKN2A PVs carriers who received first-line treatment with BRAFi+/−MEKi with an expected rate derived from phase III trials and “real-world” studies. We observed partial response in 16/19 patients (84%), and no complete responses. The overall response rate was higher than that expected from phase III trials (66%), although not statistically significant (p-value = 0.143; 95% CI = 0.60–0.97); the difference was statistically significant (p-value = 0.019; 95% CI = 0.62–0.97) in the comparison with real-world studies (57%). The clinical activity of BRAFi+/−MEKi in patients with germline CDKN2A PV was not inferior to that of clinical trials and real-world studies, which is of primary importance for clinical management and genetic counseling of this subgroup of patients.

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Type of publication: journal article (3); conference paper (1)

Type of content: peer-reviewed (3); other academic/artistic (1)

Author/Editor: Puig, S (4); Helgadottir, H (4); van Doorn, R (4)Undo refine; Ghiorzo, P (4); Queirolo, P (3); Hayward, NK (2); show more...; Kapiteijn, E (2); Spagnolo, F (2); Pastorino, L (2); Bruno, W (2); Hoiom, V (2); Adams, DJ (2); Johansson, P. (1); Warrier, S (1); Hicks, B. (1); Bergmann, C. (1); Burke, J (1); Molven, A (1); Al-Jamal, RT (1); Jager, MJ (1); Marinkovic, M (1); Kiilgaard, JF (1); Kilic, E (1); Kivela, TT (1); Bressac-de Pailleret ... (1); Visser, M. (1); Stern, MH (1); Nielsen, M. (1); Stoppa-Lyonnet, D. (1); Adlard, J (1); Mann, G. (1); Tucker, MA (1); Freedman, ND (1); Landi, MT (1); Yang, XR (1); Goldstein, AM (1); Carter, BD (1); Poplawski, N (1); Gerami, P. (1); Bishop, T (1); Elder, DE (1); Harland, M (1); Holland, EA (1); Golmard, L (1); Klebe, S (1); Kanetsky, PA (1); Gruis, NA (1); Newton-Bishop, J (1); Nagore, E (1); Menin, C (1); show less...

University: Karolinska Institutet (4)

Language: English (4)

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