Genetic Pathology

• Molecular analyses of cancer predisposition syndromes, in the frame of large international collaborations and consortia. The research group has been working on the definition of inherited risk factors in the development of malignant mesothelioma of the pleura since the early 2000s, and on the definition of the BAP1 cancer syndrome, due to germline mutations in the tumor suppressor gene BAP1.
• Inherited ribosomopathies, diseases characterized by predisposition to cancer and mutations in genes encoding ribosomal proteins.
• Most recently, the group has been studying the interaction among intestinal microbiota, lifestyle, diet, genetic predisposition, and colorectal cancer development.
• Study of the effects of San Pastore Bread on gut microbiota and metabolome (Piedmont Rural Development Programme 2014-2020 (PSR) - Misura 16 – Operation 16.1.1 “Costituzione, gestione e operatività dei gruppi operativi del PEI- AGRI" Project Pa.N.E. ‐ Panem Nostrum Everyday ‐ Nutrire Terdona). Details and information on: www.panesanpastore.it

1. .Clavenna MG, et al. Distinct Signatures of Tumor-Associated Microbiota and Metabolome in Low-Grade vs. High-Grade Dysplastic Colon Polyps: Inference of Their Role in Tumor Initiation and Progression. Cancers (Basel). 2023 Jun 6;15(12):3065. doi: 10.3390/cancers15123065.
2. Piantanida N, et al. Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation. Front Genet. 2022 Dec 12:13:1045236. doi: 10.3389/fgene.2022.1045236
3. Sculco M, et al. Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience. Diagnostics 2022, 12, 1710. doi: 10.3390/diagnostics 12071710
4. Carbone M, et al. Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations. J Thorac Oncol. 2022 Apr 21:S1556-0864(22)00192-7. doi: 10.1016/j.jtho.2022.03.014. PMID: 35462085.
5. Sculco M, et al. Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment. Eur J Cancer. 2022 Mar;163:44-54. doi: 10.1016/j.ejca.2021.12.023. PMID:35032816.
6. Barberis E, et al. A new method for investigating microbiota-produced small molecules in adenomatous polyps. Anal Chim Acta. 2021 Sep 22;1179:338841. doi: 10.1016/j.aca.2021.338841. PMID: 34535255.
7. Aspesi A, Ellis SR. Rare ribosomopathies: insights into mechanisms of cancer.Nat Rev Cancer. 2019 Apr;19(4):228-238. doi: 10.1038/s41568-019-0105-0. PMID:30670820.
8. Walpole S, et al. Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. PMID: 30517737.
9. Betti M, et al. Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes. Genes Chromosomes Cancer. 2018 Nov;57(11):573-583. doi: 10.1002/gcc.22670. PMID: 30338612.
10. Aspesi A, et al. A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. Hum Mutat. 2018 Aug;39(8):1102-1111. doi:10.1002/humu.23551. PMID: 29766597.

• Prof. Giuseppe Matullo, University of Turin: AIRC IG 2018-21390 – project: “Non-invasive predictive and prognostic biomarkers in Malignant Pleural Mesothelioma: from preclinical to clinical models” (2019-2023)
• BAP1-interest group (BIG) consortium (http://www.bap1.org/): studies on the BAP1 tumor predisposition syndrome
• Prof. Michele Carbone, University of Hawaii Cancer Center: studies on the BAP1 tumor predisposition syndrome
• Dr. Federica Grosso, AO SS. Antonio e Biagio e Cesare Arrigo Hospital, Alessandria: studies on mesothelioma
• Dr. Roberta Libener, AO SS. Antonio e Biagio e Cesare Arrigo Hospital, Alessandria: studies on mesothelioma
• Prof. Ottavio Rena, Thoracic Surgery Unit, Maggiore della Carità Hospital of Novara: studies on mesothelioma
• Proff. Giorgio V. Scagliotti and Luisella Righi, University of Turin: studies on the BAP1 tumor predisposition syndrome
• Dr. Chiara Menin, Veneto Institute of Oncology IOV-IRCCS: studies on the BAP1 tumor predisposition syndrome
• Dr. Caterina Dianzani, Campus Bio-Medico University Hospital, Rome: studies on the BAP1 tumor predisposition syndrome
• DBAF (Diamond Blackfan Anemia Foundation, USA), DBAR (Diamond Blackfan Anemia Registry, USA), EuroDBA (Diamond Blackfan Anemia European Consortium), DBA Italia: studies on Diamond Blackfan Anemia
• Prof. Steven R. Ellis, Department of Biochemistry and Molecular Genetics, University of Louisville, USA – collaborator and UPO visiting professor: studies on Diamond Blackfan Anemia
• Proff. Laura Moro and Mauro Ravera, University of Eastern Piedmont: studies on mesothelioma
• Proff. Renzo Boldorini, Daniela Ferrante, Lucia Corrado, Mara Giordano, and Marcello Manfredi, University of Eastern Piedmont: studies on mesothelioma and colorectal cancer
• Proff. Elisa Bona, Salvatore Sutti, Barbara Azzimonti, Flavia Prodam, Marco Corazzari and Davide Corà, University of Eastern Piedmont: AIRC IG 2021-25886 – project: “Dissecting the interaction among the intestinal microbiota, obesity and colon cancer development (DiaMOnD)”
• Proff. Mauro Giulio Papotti and Giorgio Maria Saracco, University of Turin/A.O.U. Città della Salute e della Scienza of Turin: AIRC IG 2021-25886 – project: “Dissecting the interaction among the intestinal microbiota, obesity and colon cancer development (DiaMOnD)”
• Dr. Nico Pagano, Gastroenterology Unit, Maggiore della Carità Hospital of Novara: project: MIMEC “Analysis of MIcrobiota and its MEtabolome in sporadic and hereditary Colorectal cancer” and AIRC IG 2021-25886 – project: “Dissecting the interaction among the intestinal microbiota, obesity and colon cancer development (DiaMOnD)”
• Proff. Luca Antonioli and Emilia Ghelardi, University of Pisa: AIRC IG 2021-25886 – project: “Dissecting the interaction among the intestinal microbiota, obesity and colon cancer development (DiaMOnD)”
• Prof. Edoardo Pasolli, University of Naples Federico II: AIRC IG 2021-25886 – project “Dissecting the interaction among the intestinal microbiota, obesity and colon cancer development (DiaMOnD)”
• Proff. Antonella Capriello, Leonardo Marchese, Flavia Prodam, Elisa Robotti, University of Eastern Piedmont: Project "Pa.N.E. Panem Nostrum Everyday"

• AIRC IG 2021-25886 - project “Dissecting the interaction among the intestinal microbiota, obesity and colon cancer development (DiaMOnD)” - P.I. Irma Dianzani (2022-2026)
• Programme “Dipartimenti di Eccellenza 2018-2022” of the Italian Ministry of Education, University and Research (MIUR), FOHN Project – Department of Health Sciences, University of Eastern Piedmont – project MIMEC “Analysis of MIcrobiota and its MEtabolome in sporadic and hereditary Colorectal cancer”
• offer of compensation to the inhabitants of Casale Monferrato deceased or affected by mesothelioma – project HERMES “HEreditary Risk in MESothelioma” (2019-2020) - P.I. Irma Dianzani and Corrado Magnani
• University of Eastern Piedmont (grant FAR 2019) - project “Effects of ribosomal stress on erythroid maturation” – P.I. Anna Aspesi
• DBA Foundation USA (grant 2020) - project “Harnessing RNA activation to treat Diamond Blackfan anemia” - P.I. Anna Aspesi
• DBA Foundation UK (grant 2017) - project “Improving the interpretation of genetic diagnosis of Diamond-Blackfan anaemia: a new functional assay to assess the pathogenicity of missense mutations” - P.I. Anna Aspesi
• Collaboration in the "Pa.N.E. Panem Nostrum Everyday" project funded by Piedmont Region - P.I Antonella Capriello
• Donation from Fondazione DBA (2023) - P.I Anna Aspesi

PI: Irma Dianzani

RTD: Anna Aspesi

PostDoc: Marika Sculco

PhD students: Marta La Vecchia, Soni Joseph, Giulia Borgonovi, Gloria Sala

Research fellow: Marta Potenza