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SBSC Dipartimento di Scienze Biomediche Sperimentali e Cliniche

Gruppo Papi

Hereditary cancer laboratory

 

Coordinator of Research Team

Name: Laura Papi

Position: Associate Professor

Name of Research Team/Laboratory Hereditary cancer laboratory

e-mail: laura.papi@unifi.it

telephone number: +39055278249

 

 

Brief biographical sketch of the Coordinator

  1. 1984: Graduated at the Faculty of  Medicine and Surgery (MD) 110/110 cum laude University of Florence
  2. 1990: PhD in Applied Physiopathology
  3. 1995: “Specialist in Medical genetics”, University of Florence, Faculty of Medicine 70/70 cum laude

2001 - present: Associate professor, Dept. of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence. Italy.
1994 - 2001: Senior physician, Medical Genetics Unit, Careggi University Hospital, Florence, Italy.
1992 - 1993: Technician, Dept. of Clinical Physiopathology Medical Genetics Unit, Florence, Italy.
1990 - 1991: Postdoc fellow, Dept. of Pathology, Cancer Research Campaign Lab., Cambridge, U.K.
1985 - 1989: Ph.D. student Medical Genetics Unit, Dept. of Clinical Physiopathology, Florence, Italy:

Member of the scientific board of the Doctorate/PhD Program

Member of the Collegium for PhD in GENETICA, ONCOLOGIA E MEDICINA CLINICA (GENOMEC) 

Member of the following Scientific Societies

SIGU Società Italiana Genetica Umana

Research Team

  1. Roberta Sestini BS, PhD
  2. Francesca Gensini, MD, PhD
  3. Anna Laura Putignano, BS
  4. Serena Falconi, BS 

Current research interests 

Genetics of Schwannomatosis and related syndromes.

Genetics of Hereditary breast-ovarian cancer.

Genetics of Hereditary colon cancer.

 

Current / recent sources of funding

2010-2013: “Exome Sequencing of schwannomatosis genomes.” Children's Tumor Foundation. Amount: $ 75.000
2014-2018: " Hereditary schwannomatosis: identification of new genes and generation of animal models to dissect the interplay of the pathways involved". Ministero della Salute. Amount: € 376.441
2014-2018: "Identification of novel Schwannomatosis genes through exome sequencing". Istituto Toscano Tumori. Amount: € 162.000
2015-2017: “Schwannomatosis-associated schwannomas: molecular profiling of laser microdissected tumor cells with distinctive INI1 protein expression.” Department of Defense U.S.A. Amount: $109.992
2017-present: “Synodous on schwannomatosis”. Children's Tumor Foundation. Amount $ 130.000 

2019-present: “Molecular pathways in Schwannomatosis: exploiting in vitro models for the identification of new therapeutic targets”.  PRIN 2017: € 141.986

 

10 best publications of the last 5 years

1: Torricelli E, Occhipinti M, Cavigli E, Tancredi G, Rosi E, Rossi C, Bonaguro M, Candita L, Papi L, Novelli L, Bezzi M, Bargagli E, Voltolini L, Pistolesi M. The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome. Respiration. 2019;98(2):125-132. doi: 10.1159/000498973. Epub 2019 Jul 2. PubMed PMID: 31266032.

2: Paganini I, Capone GL, Vitte J, Sestini R, Putignano AL, Giovannini M, Papi L. Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma. J Neurooncol. 2018 Mar;137(1):33-38. doi: 10.1007/s11060-017-2711-6. Epub 2017 Dec 11. PubMed PMID: 29230670.

3: Capone GL, Putignano AL, Trujillo Saavedra S, Paganini I, Sestini R, Gensini F, De Rienzo I, Papi L, Porfirio B. Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection. J Mol Diagn. 2018 Jan;20(1):87-94.  doi: 10.1016/j.jmoldx.2017.09.005. Epub 2017 Oct 20. PubMed PMID: 29061375.

4: Paganini I, Sestini R, Capone GL, Putignano AL, Contini E, Giotti I, Gensini F, Marozza A, Barilaro A, Porfirio B, Papi L. A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe  combined immunodeficiency. Clin Genet. 2017 Dec;92(6):664-668. doi: 10.1111/cge.13085. Epub 2017 Oct 24. PubMed PMID: 28657137.

5: Tricarico R, Kasela M, Mareni C, Thompson BA, Drouet A, Staderini L, Gorelli  G, Crucianelli F, Ingrosso V, Kantelinen J, Papi L, De Angioletti M, Berardi M, Gaildrat P, Soukarieh O, Turchetti D, Martins A, Spurdle AB, Nyström M, Genuardi  M; InSiGHT Variant Interpretation Committee. Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. Hum Mutat. 2017 Jan;38(1):64-77. doi: 10.1002/humu.23117. Epub 2016 Oct 17. PubMed PMID: 27629256.

6: Gigante L, Paganini I, Frontali M, Ciabattoni S, Sangiuolo FC, Papi L. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. Fam Cancer. 2016 Jan;15(1):123-6. doi: 10.1007/s10689-015-9836-6. PubMed PMID: 26342593.

7: Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M,Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS, Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA, Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C,  Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P. FANCM c.5791C>T nonsense mutation (rs144567652)  induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30. PubMed PMID: 26130695; PubMed Central PMCID: PMC4550823.

8: Contini E, Paganini I, Sestini R, Candita L, Capone GL, Barbetti L, Falconi S, Frusconi S, Giotti I, Giuliani C, Torricelli F, Benelli M, Papi L. A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene. PLoS One. 2015 Jun 12;10(6):e0129099. doi: 10.1371/journal.pone.0129099. eCollection 2015. PubMed PMID: 26066488; PubMed Central PMCID: PMC4466335.

9: Paganini I, Sestini R, Cacciatore M, Capone GL, Candita L, Paolello C, Sbaraglia M, Dei Tos AP, Rossi S, Papi L. Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis. Hum Pathol. 2015 Aug;46(8):1226-31. doi: 10.1016/j.humpath.2015.04.008. Epub 2015 May 6. PubMed PMID: 26001331.

10: Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson E, Hulsebos TJ, Giovannini M, Nelson SF, Papi L. Expanding the mutational spectrum of LZTR1 in schwannomatosis. Eur J Hum Genet. 2015 Jul;23(7):963-8. doi: 10.1038/ejhg.2014.220. Epub 2014 Oct 22. PubMed PMID: 25335493; PubMed Central PMCID: PMC4463507.

 

 

Main scientific contributions

Contributed to the identification of the Multiple Endocrine Neoplasia type 2 gene.

Discovered the 4-hit/3-step model involved in the tumorigenesis of schwannomatosis-associated schwannomas

 

Collaborations

Prof. Marco Giovannini: Department of Head and Neck Surgery, David Geffen School of Medicine at University of California Los Angeles

Prof. Antonio Iavarone: Institute for Cancer Genetics, Columbia University, New York

Prof. Gelareh Zadeh: MacFeeters-Hamilton Center for Neuro-Oncology Research, Toronto, Canada

Prof. Michel Kalamarides: Service de Neurochirurgie – Neurofibromatose, Hôpital Pitié-Salpêtrière, Paris.

Dr. Paolo Radice: Servizio di Medicina predittiva: basi genetiche del rischio ereditario e test genetici, Fondazione IRCCS – Istituto Nazionale Dei Tumori, Milano

 
ultimo aggiornamento: 08-Nov-2019
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