VALENTINA SILVESTRI

QUALIFICA ATTUALE (con SSD):
Professore Associato, MEDS-02/A

DIPARTIMENTO: Medicina Molecolare

FORMAZIONE E CARRIERA
Ottobre 2025 – Presente: Professore Associato (tempo pieno), SSD MEDS-02/A – Patologia Generale, Dip. di Medicina Molecolare, Facoltà Farmacia e Medicina, Sapienza Università di Roma.
Ottobre 2022 – Ottobre 2025: Ricercatore Universitario a TD di tipo B (tempo pieno), SSD MED/04 – Patologia Generale, Dip. di Medicina Molecolare, Facoltà Farmacia e Medicina, Sapienza Università di Roma.
2022: Borsista di Ricerca finanziata dalla Fondazione Umberto Veronesi, Dip. di Medicina Molecolare, Sapienza Università di Roma.
2021: Abilitazione Scientifica Nazionale II fascia, SC 06/A2-MED/04.
2020: Abilitazione Scientifica Nazionale II fascia, SC 06/N1-MED/46.
2016 – 2022: Assegnista di Ricerca, Dip. di Medicina Molecolare, Sapienza Università di Roma.
2014: Visiting fellow, Department of Public Health and Primary Care, University of Cambridge (UK).
2014: Master in Bioinformatica: applicazioni biomediche e farmaceutiche con lode, Sapienza Università di Roma.
2013: Corso di Alta Formazione in Metodi Statistici per la ricerca e la pratica biomedica, Sapienza Università di Roma.
2013 – 2015: Borsista della Fondazione Italiana per la Ricerca sul Cancro (FIRC), Dip. di Medicina Molecolare, Sapienza Università di Roma.
2009 – 2012: Dottorato di Ricerca in Dermatologia, Anatomia, Chirurgia Plastica, Sapienza Università di Roma.
2007 – 2009: Laurea Specialistica in Genetica e Biologia Molecolare con lode, Sapienza Università di Roma.
2003 – 2007: Laurea Triennale in Scienze Biologiche, Sapienza Università di Roma.

PRINCIPALI LINEE DI RICERCA
• Screening genomico mediante tecnologie di sequenziamento di nuova generazione (NGS), per l’identificazione di nuovi geni di suscettibilità.
• Studio di varianti genetiche di suscettibilità mediante studi GWAS (Genome Wide Association Studies) condotti nell'ambito di consorzi internazionali.
• Sviluppo di PRS (Polygenic Risk Scores) per la valutazione del rischio poligenico di sviluppare tumori.
• Caratterizzazione dello spettro di tumori e della stima del rischio associato ai principali geni di suscettibilità ai carcinomi ereditari, tra cui BRCA1, BRCA2 e PALB2.
• Caratterizzazione molecolare dei tumori solidi: identificazione di mutazioni somatiche associate alla tumorigenesi, analisi di trascrittomica per l’identificazione di sottotipi molecolari, espressione di miRNA per la valutazione della progressione metastatica.

PROGETTI FINANZIATI
2024: My First AIRC Grant (MFAG) 5-year research project “Molecular characterization of BRCA2-associated cancers: role of environmental and sex-related determinants”.
2023: Ricerca di Ateneo, Sapienza Università di Roma “Contribution of germline DNA copy number variations in male breast cancer susceptibility”
2022: SEED PNR, Sapienza Università di Roma “Optimizing polygenic risk scores for breast cancer risk prediction and precision prevention”
2021: Avvio alla ricerca, Sapienza Università di Roma “Dissecting transcriptomic-based immunophenotypes in male breast cancer”.
2017: Avvio alla ricerca, Sapienza Università di Roma “BRCA and beyond: a case-control study investigating the role of unexpected mutations in DNA repair related genes as breast cancer risk factors in men”.
2016: Avvio alla ricerca, Sapienza Università di Roma “Evaluation of common genetic variants and their combined effect in male breast cancer risk”.

COLLABORAZIONI
• Studio Multicentrico Italiano sul Carcinoma Mammario Maschile (PI: Laura Ottini, Sapienza Università di Roma)
• Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) (PI: Antonis C. Antoniou, Department of Public Health and Primary Care, University of Cambridge, UK, and Georgia Chenevix-Trench, Cancer Genetics Laboratory, Queensland Institute of Medical Research, Australia)
• PALB2 interest group (PI: Marc Tischkowitz, Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, University of Cambridge, UK)

CINQUE PUBBLICAZIONI SELEZIONATE

1.Bucalo A, Conti V, Valentini V, Capalbo C, Bruselles A, Tartaglia M, Bonanni B, Calistri D, Coppa A, Cortesi L, Giannini G, Gismondi G, Manoukian S, Manzella L, Montagna M, Peterlongo P, Radice P, Russo A, Tibiletti MG, Turchetti D, Viel A, Zanna I, Palli D, Silvestri V*, Ottini L*. Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study. European Journal of Cancer. 2023. doi: 10.1016/j.ejca.2023.04.022. (*co-last authors).
2. Li S*, Silvestri V*, et al. Cancer Risks Associated with BRCA1 and BRCA2 Pathogenic Variants. J Clin Oncol. 2022 Jan 25:JCO2102112. doi: 10.1200/JCO.21.02112 (*co-first authors).
3. Silvestri V, Leslie G, Barnes DR; and the CIMBA Group. 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 Aug 1;6(8):1218-1230. doi: 10.1001/jamaoncol.2020.2134.
4. Lecarpentier J*, Silvestri V*, et al. 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. (*co-first authors).
5. Silvestri V, Zelli V, Valentini V, Rizzolo P, Navazio AS, Coppa A, Agata S, Oliani C, Barana D, Castrignanò T, Viel A, Russo A, Tibiletti MG, Zanna I, Masala G, Cortesi L, Manoukian S, Azzollini J, Peissel B, Bonanni B, Peterlongo P, Radice P, Palli D, Giannini G, Chillemi G, Montagna M, 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 Jan 1;123(2):210-218. doi: 10.1002/cncr.30337.

ENGLISH VERSION

PRESENT POSITION (con SSD):
Associate professor, MEDS-02/A

DEPARTMENT: Molecular Medicine

EDUCATION AND CAREER
2025 – Present: Associate professor MEDS-02/A – Pathology, Department of Molecular Medicine, Faculty of Pharmacy and Medicine, Sapienza University of Rome.
2022 – 2025: Assistant professor (RTDB) SSD MED/04 – Pathology, Department of Molecular Medicine, Faculty of Pharmacy and Medicine, Sapienza University of Rome.
2022: Fondazione Umberto Veronesi Post-Doctoral Research Fellow, Department of Molecular Medicine, Sapienza University of Rome
2021: National Scientific Qualification as Associate Professor, SC 06/A2-MED/04
2020: National Scientific Qualification as Associate Professor, SC 06/N1-MED/46
2016 – 2022: Research fellow, Department of Molecular Medicine, Sapienza University of Rome
2014: Visiting fellow, Department of Public Health and Primary Care, University of Cambridge (UK)
2014: Postgraduate Course in Bioinformatics: biomedical and pharmaceutical applications cum laude, Sapienza University of Rome
2013: Advanced Training Course in Statistical Methods for biomedical research, Sapienza University of Rome 2013 – 2015: FIRC (Italian Founding for Cancer Research) fellow at Department of Molecular Medicine, Sapienza University of Rome
2009 – 2012: Ph.D. in Dermatology, Anatomy, Plastic Surgery, Sapienza University of Rome
2007 – 2009: Second level Degree in Genetics and Molecular Biology cum laude, Sapienza University of Rome
2003 – 2007: First level Degree in Biological Sciences, Sapienza University of Rome

MOST RELEVANT RESEARCH LINES
• Genomic screening of cancer patients by NGS (Next generation sequencing) for the identification of cancer susceptibility genes.
• Investigation of common genetic variants in the susceptibility of tumors by GWAS (Genome Wide Association Studies).
• Development of Polygenic Risk Score (PRS) models for accurate cancer risk prediction.
• Characterization of the cancer spectrum and risk estimates associated with cancer susceptibility genes, including BRCA1, BRCA2 and PALB2.
• Tumor profiling for the characterization of genetic and epigenetic signatures by genome, transcriptome and DNA methylome analysis.

GRANTS AS PRINCIPAL INVESTIGATOR
2024: My First AIRC Grant (MFAG) 5-year research project. Title of the project: Molecular characterization of BRCA2-associated cancers: role of environmental and sex-related determinants.
2023: Research grant from Sapienza University of Rome. 1-year research project. Title of the project: Contribution of germline DNA copy number variations in male breast cancer susceptibility.
2022: SEED PNR grant, Sapienza University of Rome. 2 year-project. Title of the project: Optimizing polygenic risk scores for breast cancer risk prediction and precision prevention.
2021: Post-doc annual research grant "Avvio alla ricerca", Sapienza University of Rome. Title of the project: Dissecting transcriptomic-based immunophenotypes in male breast cancer.
2017: Post-doc annual research grant "Avvio alla ricerca", Sapienza University of Rome. Title of the project: BRCA and beyond: a case-control study investigating the role of unexpected mutations in DNA repair related genes as breast cancer risk factors in men.
2016: Post-doc annual research grant "Avvio alla ricerca", Sapienza University of Rome. Title of the project: Evaluation of common genetic variants and their combined effect in male breast cancer risk.

COLLABORATIONS
• Italian Multicenter Study on Male Breast Cancer (PI: Laura Ottini, Sapienza University of Rome)
• Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) (PI: Antonis C. Antoniou, Department of Public Health and Primary Care, University of Cambridge, UK, and Georgia Chenevix-Trench, Cancer Genetics Laboratory, Queensland Institute of Medical Research, Australia)
• PALB2 interest group (PI: Marc Tischkowitz, Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, University of Cambridge, UK)

FIVE SELECTED PUBLICATIONS
1.Bucalo A, Conti V, Valentini V, Capalbo C, Bruselles A, Tartaglia M, Bonanni B, Calistri D, Coppa A, Cortesi L, Giannini G, Gismondi G, Manoukian S, Manzella L, Montagna M, Peterlongo P, Radice P, Russo A, Tibiletti MG, Turchetti D, Viel A, Zanna I, Palli D, Silvestri V*, Ottini L*. Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study. European Journal of Cancer. 2023. doi: 10.1016/j.ejca.2023.04.022. (*co-last authors).
2. Li S*, Silvestri V*, et al. Cancer Risks Associated with BRCA1 and BRCA2 Pathogenic Variants. J Clin Oncol. 2022 Jan 25:JCO2102112. doi: 10.1200/JCO.21.02112 (*co-first authors).
3. Silvestri V, Leslie G, Barnes DR; and the CIMBA Group. 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 Aug 1;6(8):1218-1230. doi: 10.1001/jamaoncol.2020.2134.
4. Lecarpentier J*, Silvestri V*, et al. 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. (*co-first authors).
5. Silvestri V, Zelli V, Valentini V, Rizzolo P, Navazio AS, Coppa A, Agata S, Oliani C, Barana D, Castrignanò T, Viel A, Russo A, Tibiletti MG, Zanna I, Masala G, Cortesi L, Manoukian S, Azzollini J, Peissel B, Bonanni B, Peterlongo P, Radice P, Palli D, Giannini G, Chillemi G, Montagna M, 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 Jan 1;123(2):210-218. doi: 10.1002/cncr.30337.