Laura Papi
Associate Professor
Department of Biomedical, Experimental and Clinical Sciences
University of Florence
Italy
Biography
QUALIFICATIONS 1984 Degree in Medicine and Surgery 1990 Diploma of Doctor of Research 1995 Diploma in Specialization in Medical Genetics WORK EXPERIENCE October 2001 to today She works as Associate Professor at the University of Florence, Department of Clinical Physiopathology, Department of Medical Genetics, where she carries out assistance, teaching and research. The research is carried out mainly in the field of hereditary syndromes that predispose to the development of tumors. In particular, research interests focused on: - Type 2 Neurofibromatosis: a characterization of extensive reallocations of the NF2 gene in the panel of Italian patients. There are ongoing international collaborations for the evaluation of genotype-phenotype correlations. - Schwannomatosis: definition of clinical phenotype; search for the involved genes. - Hereditary ovarian-ovary tumor: assessment of the incidence of hereditary forms in the province of Florence, their molecular characterization and evaluation of clinical surveillance protocols. These activities were carried out under projects funded by MIUR, University and Children's Tumor Foundation. As far as clinical activity is concerned, it also carries out genetic counseling for family cancer syndromes, predominantly neurofibromatosis, familial colon cancer and hereditary breast cancer. With regard to laboratory diagnostics, it mainly deals with molecular Neurofibromatosis 2 type diagnostics and schwannomatosis and hereditary ovarian tumor forms (BRCA1 and BRCA2 genes).
Research Interest
Medical genetics
Publications
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Gigante, L; Paganini, I; Frontali, M; Ciabattoni, S; Sangiuolo, Fc; Papi, L (2016). Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.. FAMILIAL CANCER, vol. 15, pp. 123-126, ISSN:1573-7292
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Silvestri V, Barrowdale D; kConFab Investigators, Teixeira MR; Hereditary Breast and Ovarian Cancer Research Group Netherlands, Nevanlinna H; Embrace, Hamann U; Papi L (2016). Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. BREAST CANCER RESEARCH, vol. 18, pp. 15-27, ISSN:1465-5411
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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
