Name: Laura
Surname: Ottini
Citizenship: Italiana
Position: Professore Ordinario MED/04
Department of Molecular Medicine, Sapienza Università di Roma
Viale Regina Elena, 291 – 00161 Rome
Email: laura.ottini@uniroma1.it
Phone: 0039-06 4991 8268 / 8266
- PI - Research Unit “Molecular Epidemiology of Cancer”, Dpartment of Molecular Medicine, Sapienza University of Rome
- Coordinator - Italian Multicenter Study on Male Breast Cancer
- PI - CIMBA (Consortium of Investigators of Modifiers of BRCA1/2).
Education and Work Experience
2020 - present: Professore Ordinario, SSD MED/04 – Patologia Generale, Department of Molecular Medicine, Facoltà di Farmacia e Medicina, Sapienza Università di Roma.
2005 - 2019: Professore di ruolo di II fascia, SSD MED/04, Department of Molecular Medicine, Facoltà di Farmacia e Medicina, Sapienza Università di Roma.
2002 - 2004: Research Assistant, Department of Experimental Medicine and Pathology, Facoltà di Medicina e Chirurgia, Sapienza Università di Roma.
2000 - 2002: Research Assistant, Department of Oncology and Neurosciences, Facoltà di Medicina e Chirurgia, Università “Gabriele D’Annunzio”, Chieti.
1999: AIRC-Visiting Fellow, The Burnham Institute, Cancer Research Center, La Jolla, CA, USA.
1996 -1999: AIRC Fellow, Department of Experimental Medicine and Pathology, Facoltà di Medicina e Chirurgia, Sapienza Università di Roma.
1995: Board in Oncology, Facoltà di Medicina e Chirurgia, Sapienza Università di Roma
1992 -1993: Postdoc at European Molecular Biology Laboratory (EMBL), Heidelberg, Germania (Direttore, Prof. L. Philipson).
1991: MD, Sapienza Università di Roma.
MOST RELEVANT RESEARCH LINES
Research activity is mainly focused on genetics and molecular epidemiology of solid tumors, with specific interest in breast, ovary, prostate, gastrointestinal and skin cancers. The most significant studies concern the identification and characterization of genetic risk factors for breast and ovarian cancers, in the frame of national and international collaborations:
- Genomic screening of BRCA1/2 mutation negative Italian breast cancers by NGS for the identification of new susceptibility genes.
- Investigation of genetic variants in the susceptibility of common tumors (breast, ovarian and prostate cancers) by GWAS (Genome Wide Association Studies).
- Tumor profiling in breast cancer: characterization of genetic and epigenetic signatures of BRCA-positive and BRCA-negative male breast tumors.
- Identification of genetic modifiers of neoplastic risk in BRCA1/2 gene mutation carriers.
- Development of Polygenic Risk Score (PRS) models for accurate cancer risk prediction.
NATIONAL AND INTERNATIONAL COLLABORATIONS
- Fondazione IRCCS Istituto Nazionale dei Tumori, Milano (Medicina Predittiva: Basi molecolari Rischio genetico e Test genetici; Consulenza Genetica Oncologica)
- Istituto Europeo di Oncologia, Milano (Prevenzione e Genetica Oncologica)
- Centro di Riferimento Oncologico di Aviano (Genetica dei Tumori Ereditari)
- Istituto Oncologico Veneto IRCCS (Tumori eredo-familiari della mammella/ovaio)
- Ospedale Policlinico San Martino, IRCCS, Genova (Tumori Ereditari)
- Istituto per lo Studio, la Prevenzione e la rete Oncologica (ISPRO), Firenze
- Dipartimento di Oncologia ed Ematologia, Università di Modena e Reggio Emilia
- Dipartimento di Scienze della Salute, Università di Firenze
- Dipartimento di Discipline, Chirurgiche, Oncologiche e Stomatologiche, Università di Palermo
- Department of Public Health and Primary Care, University of Cambridge
- Consorzio Italiano Tumori Ereditari alla Mammella (CONSIT TEAM), coordinatore Paolo Radice.
- Breast Cancer Association Consortium (BCAC), coordinator Douglas Easton (University of Cambridge, UK)
- Consortium of Investigators of Modifiers of BRCA1/ 2 (CIMBA), coordinators Antonis Antoniou (University of Cambridge, UK), Georgia Chenevix-Trench (QIMR Berghofer-Queensland Medical Institute, Brisbane, Australia)
FIVE SELECTED PUBLICATIONS (last 5 years)
1. Barnes DR, […] Ottini L. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst. 2021. doi: 10.1093/jnci/djab147.
PRESS/MEDIA RELEASE: https://www.uniroma1.it/it/notizia/tumori-della-mammella-e-della-prostata-uomini-con-mutazione-dei-geni-brca-stime-di-rischio
2. Silvestri V, […] Ottini L. Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). JAMA Oncol. 2020. doi: 10.1001/jamaoncol.2020.2134.
PRESS/MEDIA RELEASE: https://www.uniroma1.it/sites/default/files/field_file_allegati/segnalazione_aggiornata.pdf
3. Rizzolo P, […] Ottini L. Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy. Int J Cancer. 2019 doi:10.1002/ijc.32106.
PRESS/MEDIA RELEASE: https://www.repubblica.it/dossier/salute/saluteseno/2019/01/28/news/tumore_al_seno_maschile_uno_studio_italiano_individua_i_geni_che_ne_aumentano_il_rischio-217655530/
4. Lecarpentier J, […] Ottini L. Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. J Clin Oncol. 2017 Jul 10;35(20):2240-2250. doi:10.1200/JCO.2016.69.4935.
PRESS/MEDIA RELEASE: https://www.uniroma1.it/sites/default/files/field_file_allegati/segnalazione_dei_media_okbs.pdf
5. Silvestri V, […] Ottini L. Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene. Cancer. 2017 Jan1;123(2):210-218. doi:10.1002/cncr.30337.
PRESS/MEDIA RELEASE: https://www.corriere.it/salute/sportello_cancro/18_maggio_11/anche-maschi-possono-ereditare-cancro-seno-scoperti-nuovi-geni-ae8d14c4-5501-11e8-a20f-03aeddc0ac78.shtml