Roberta Sestini
Researcher
Department of Biomedical, Experimental and Clinical Sciences
University of Florence
Italy
Biography
Dr. Roberta Sestini initially collaborated on research on the development and application of radioimmunoassay and enzyme immunoassays. Subsequently, the development of quantitative PCR and RT-PCR techniques was used to determine the degree of amplification of oncogenes in human solid tumors and to measure specific mRNAs for clinical purposes. He was later involved in research projects related to the molecular characterization of genes implicated in the predisposition to the development of tumors, particularly colorectal cancer, breast-ovary, melanoma, central nervous system. It also deals with analysis of GLI1 expression in basaliomas by real-time PCR. The research activity is mainly focused on the molecular characterization of genes involved in the development of tumors. The areas of interest concern in particular the analysis of the CDKN2A gene in melanoma-familiar subjects, the molecular characterization of subjects with Feochromocytoma / Parangangioma Syndrome by the susceptibility genes analysis, and the molecular characterization of subjects with Neurofibromatosis type 2 and Schwannomatosis by molecular analysis of NF2 and SMARCB1 genes. It has also been involved in developing and developing new methods based on real-time PCR and High Resolution Melting Analysis for the evaluation of germ mutations associated with the development of several syndromes. A recent interest area is to evaluate pattern alterations of methylation of oncospore genes in human tumors by qualitative and quantitative analysis techniques.
Research Interest
Medical genetics
Publications
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Contini, Elisa; Paganini, Irene; Sestini, Roberta; Candita, Luisa; Capone, Gabriele Lorenzo; Barbetti, Lorenzo; Falconi, Serena; Frusconi, Sabrina; Giotti, Irene; Giuliani, Costanza; Torricelli, Francesca; Benelli, Matteo; Papi, Laura (2015). A systematic assessment of accuracy in detecting somatic mosaic variants by deep amplicon sequencing: Application to NF2 gene. PLOS ONE, vol. 10, pp. e0129099-e0129099, ISSN:1932-6203
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Porfirio, Berardino; Sestini, Roberta; Gorelli, Greta; Cordovana, Miriam; Mannoni, Alessandro; Usher, Jeanette L.; Introne, Wendy J.; Gahl, William A.; Vilboux, Thierry (2016). A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria. JIMD REPORTS, vol. 30, pp. 45-52, ISSN:2192-8304
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Caltabiano, R; Magro, G; Polizzi, A; Praticò, Ad; Ortensi, A; D'Orazi, V; Panunzi, A; Milone, P; Maiolino, L; Nicita, F; Capone, Gl; Sestini, R; Paganini, I; Muglia, M; Cavallaro, S; Lanzafame, S; Papi, L; Ruggieri, M. (2017). A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.. CHILDS NERVOUS SYSTEM, vol. Apr 1., pp. 0-0, ISSN:0256-7040
