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BioMed Central, Journal of Translational Medicine, 1(12), 2014

DOI: 10.1186/1479-5876-12-117

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Discrepant alterations in main candidate genes among multiple primary melanomas

Journal article published in 2014 by A. Testori, Maria Colombino, Maria Cristina Sini, Amelia Lissia, Vincenzo De Giorgi, Ignazio Stanganelli, Fabrizio Ayala, Daniela Massi ORCID, Corrado Rubino, Antonella Manca, Panagiotis Paliogiannis, Susanna Rossari, Serena Magi, C. Caracò, Laura Mazzoni and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Background: Alterations in key-regulator genes of disease pathogenesis ( BRAF , cKIT , CyclinD1 ) have been evaluated in patients with multiple primary melanoma (MPM). Methods: One hundred twelve MPM patients (96 cases with two primary melanomas, 15 with three, and 1 with four) were included into the study. Paired synchronous/asynchronous MPM tissues (N = 229) were analyzed for BRAF mutations and cKIT/CyclynD1 gene amplifications. Results: BRAF mutations were identified in 109/229 (48%) primary melanomas, whereas cKIT and CyclinD1 amplifications were observed in 10/216 (5%) and 29/214 (14%) tumor tissues, respectively. While frequency rates of BRAF mutations were quite identical across the different MPM lesions, a significant increase of cKIT (p