PREVENTIVE AND PREDICTIVE MEDICINE DEPARTMENT

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1 clinical-scientific departments PREVENTIVE AND PREDICTIVE MEDICINE DEPARTMENT DIRECTOR OF DEPARTMENT: Marco A. Pierotti (interim) The department focuses primarily on epidemiological and translational research. This comprises knowledge of lifestyle and genetic risk factors in order to take preventive action (i.e. from prediction to prevention), and knowledge of inequalities in cancer prevention and treatment in order to take corrective actions. The research relies on extensive interaction between researchers in the fields of basic experimental science, epidemiology, genetics, and clinical medicine. The priorities of the Department are: promotion of healthy diet and lifestyle: to proceed from large cohort studies, in which the INT has been actively involved for more than 20 years, to dietary intervention studies targeting the general population, high-risk subgroups, and cancer patients to minimize the risk of recurrence (facilities include a hormonal laboratory and a teaching kitchen); inequalities in survival and cure rates of cancer patients: from the systematic description of cancer incidence, prevalence, and survival to research on the interpretation of survival differences between and within countries, and promote actions to minimize such inequalities; environmental and occupational risk factors: this research ranges from standard epidemiological designs to the systematic monitoring of occupational risk through linkage of cancer registry data and occupational history files; hereditary cancer prevention in high-risk families: to go beyond clinical surveillance and prophylactic surgery, and promote research on environmental and lifestyle factors as well as genetic characteristics that may affect the penetrance of hereditary cancer genes; in the field of low penetrance cancer genes and polygenic inheritance: to classify the complex genetics of risk and prognosis of lung and breast cancer. The Department is organized in the following Units: Epidemiology and Prevention. The Unit is involved in large prospective and intervention 53

2 SCIENTIFIC REPORT 2013 back to contents studies on the association between diet, hormones, nutrition, lifestyle, genetic factors, and cancer risk. Analytical Epidemiology and Health Impact. The Unit investigates patterns of care and cancer patient survival, promotes research in the field of public health, and conducts studies for planning cancer control. Scientific activities are carried out in collaboration with the Istituto Superiore di Sanità. Evaluative Epidemiology. The Unit is mainly involved in assessing the burden of cancer in populations. Several projects are focused on rare cancers and tumors diagnosed in children, adolescents, and young adults (AYA). However, major cancers like prostate, breast, colorectal, lung, cervix, and skin melanoma are considered for estimations of mortality, incidence and prevalence. Cancer Registry and Environmental Epidemiology. The Unit activity focuses on information systems and disease registries for epidemiological research and on the evaluation of the environmental, territorial, and prognostic risks. In July 2013, Dr Paolo Crosignani, for many years head of this Unit, retired after a successful scientific career. Since 1st October following organizational changes, two Units were derived. Medical Genetics. This Unit offers genetic counseling for several hereditary predispositions to cancer syndromes. The main focus is the study of hereditary breast and ovarian cancer syndrome (HBOC), but other inherited predispositions to cancer such as Li-Fraumeni Syndrome and familial melanoma are investigated. The principal goal is to identify individuals with an increased genetic risk of cancer in order to offer a targeted clinical management strategy including integrated and multidisciplinary healthcare service for prevention and treatment. Hereditary Digestive Tract Tumors. The Unit is devoted to the counseling, molecular testing, and clinical management of individuals with genetic predisposition to the major hereditary gastrointestinal cancer syndromes. These include Lynch syndrome (or hereditary non-polyposis colorectal cancer, HNPCC), familial adenomatous polyposis (FAP) and its phenotypic variant, attenuated-fap, Peutz-Jeghers syndrome, juvenile polyposis, and hereditary gastric cancer. Individuals with evidence of hereditary susceptibility to cancer are counseled and informed about personal risk and that of their relatives. Depending on the fulfillment of defined criteria, individuals who receive genetic counseling are offered the possibility to undergo molecular testing for identification of specific genetic alteration(s) that may be associated with the increased risk of cancer in their families. These criteria include personal and family history of cancer, presence of specific clinical phenotypes, and tumor characteristics. Molecular Basis of Genetic Risk and Genetic Testing. This research Unit is devoted to the identification and characterization of genetic elements associated with predisposition to cancer and cancer progression. Studies are mainly focused on breast carcinoma and Wilms tumor. Genetic Epidemiology and Pharmacogenomics. The research group conducts studies to identify genetic factors associated with the risk and prognosis of individual cancer. The main study model is lung cancer, a big killer characterized by a strong environmental risk factor formed by cigarette smoke. HIGHLIGHTS The European Prospective Investigation into Cancer and Nutrition (EPIC) study ( was designed to investigate the relationships between diet, lifestyle, genetic, and environmental factors and the incidence of cancer and other chronic disease in 23 centers across 10 European countries: Denmark, France, Germany, Greece, Italy, The Netherlands, Norway, Spain, Sweden, and the United Kingdom. Over 520,000 healthy volunteers, characterized by large variations in dietary habits and cancer risk, have been recruited. The study centers were chosen in order to increase the power to detect diet and cancer associations by increasing the heterogeneity of exposure levels and the variations in the frequency of the cancers of interest. Clinical interpretation of cancer survival differences in Italy and Europe across regions and groups of patients through the collection and analyses of data in population cancer registries (CR) and hospital based cohorts of patients. Survival time trends and geographic 54

3 clinical-scientific departments differences in cancer survival are being analyzed using the EUROCARE data base - the largest European data base on survival and care of cancer patients- which presently centralizes data from 116 European CRs in 21 countries, with diagnoses from 1995 to The results of these analyses provide a measure of the efficacy of European health systems in cancer control, contributing to identify regions with low survival, where actions should be implemented to improve cancer diagnosis and treatment and to reduce inequalities in outcomes. Rare diseases including rare cancers are a priority for action in the European Public Health Program ( ). The importance of providing accurate information on rare diseases to all European citizens is clearly stated in the Communication of the European Commission on Rare Diseases: Europe s challenges, and in the Recommendations from the Council. Data from INT registry, the oldest still active in Italy, are validated and accepted by the IARC for the publication of Cancer Incidence in Five Continents. The registry participates in collaborative studies such as Epic, Ordet, Eurocare, RareCare, Accis, and Caremore, and supports the evaluation of screening programs in the Province of Varese. For more than 20 years, clinical units dedicated to counseling, genetic testing, and clinical management of individuals with evidence of genetic susceptibility to cancer have been operating at INT, mainly on familial breast, ovarian, and colorectal carcinomas. These activities fuel research projects aimed at increasing our current knowledge on the molecular basis of these diseases and our ability to diagnose individuals who are at higher risk of cancer development due to a genetic predisposition. The process of tumor progression and metastatic dissemination can involve germline polymorphisms and individual gene expression signatures in normal tissue. Our project is aimed to integrate genome and transcriptome data across multiple individuals, thus allowing identification of genetic biomarkers that are predictive of clinical phenotypes of colorectal or lung cancer. KEYWORDS prospective studies, diet, hormones, metformin, breast cancer, intervention studies, cancer epidemiology, health indicators, cancer burden, rare cancers, occupation, environment, familial and hereditary cancer, genetic counseling, cancer genetics, single nucleotide polymorphisms, experimental models, in vitro assays. EPIDEMIOLOGY AND PREVENTION Vittorio Krogh, MD, MSc Claudia Agnoli, Nutrition Tech D, MSc; Manuela Bellegotti, BSc; Eleonora Bruno, Nutrition Tech D, MSc; Patrizia Cogliati, Biol Sci D; M. Gaetana Di Mauro, MD; Giuliana Gargano, Biol Sci D; Giulia Garrone, Chemist D; Sara Grioni, Nutrition Tech BSc; M. Valeria Pala, Agronomy D; Patrizia Pasanisi, MD, MSc; Samuele Pedraglio, Chemist D; Giuseppina Saragò, Biol Sci D; Sabina Sieri, Biol Sci D; Elisabetta Venturelli, Biol Sci D; Anna Villarini, Biol Sci D Resident Marilena M. Vece, MD Technicians Adalberto Cavalleri, Daniela Del Sette Cerulli Aministrative Personnel Alberto Evangelista, Paola Consorti, Patrizia Curtosi, Fabrizia Genoni, M. Grazia Guerrini, Maria Larossa Consultant Franco Berrino ANALYTICAL EPIDEMIOLOGY AND HEALTH IMPACT Milena Sant, MD Hade Amash, MD; Camilla Amati, BA; Paolo Baili, Statistician, PhD; Francesca Bella, MD; Paolo Bonaiuti, Mathematics D, PhD; Ilaria Casella, Economist; Ilaria Cavallo, Informatics D; Francesca Di Salvo, Statistics D; Francesco L. Funaro, Informatics D; Elisabetta Meneghini, Physics, PhD; Pamela Minicozzi, Mathematics D, PhD Technicians Simone Bonfarnuzzo, Alberto Turco Agatina A. Cifalà, Chiara Margutti, Stefania Saltarelli EVALUATIVE EPIDEMIOLOGY Gemma Gatta, MD Laura Botta, BioStatistics D; Roberto Foschi, Math D, Msc; Annalisa Trama, MD PhD Rossana Berruti, Lucia Buratti ENVIRONMENTAL EPIDEMIOLOGY (SINCE 1 ST OCTOBER) Paolo Contiero, DSc, PhD Martina Bertoldi, DSc Fellows Alessandro Borgini, DSc; Maria E. Sanoja Gonzalez, DSc Technician Alessandra Scaburri Immacolata Favia, Alessandro Cau CANCER REGISTRY (SINCE 1 ST OCTOBER) Giovanna Tagliabue, MD, PhD 55

4 SCIENTIFIC REPORT 2013 back to contents Laura Di Grazia, DSc; Emanuela Frassoldi, DSc; Daniela Gada, DSc; Mariarosa Ruzza, DSc Fellows Edoardo Bai, MD, PhD; Enrico Oddone, MD, PhD; Milena Calati, DH; Lucia Preto, DSc Technicians Sabrina Fabiano, Andrea Tittarelli Tiziana Codazzi, Anna Maghini MEDICAL GENETICS Siranoush Manoukian, MD, PhD Clinical Staff Bernard Peissel, MD, PhD Data Manager Daniela Zaffaroni, Biol Sci D, PhD Residents Giulia Melloni, MD; Giulietta Scuvera, MD Alex Sandra Masioli Dos Santos, Caterina Spina HEREDITARY DIGESTIVE TRACT TUMORS Lucio Bertario, MD Paola Sala, Biol Sci D; Stefano Signoroni, Biol Sci D Mariangela Di Ceglie, Ornella Galuppo MOLECULAR BASES OF GENETIC RISK AND GENETIC TESTING Paolo Radice, Biol Sci D Daniela Perotti, PhD Postdoctoral Fellows Laura Caleca, PhD; Mara Colombo, PhD; Giovanna De Vecchi, Biol Sci D; Antonio Fiorino, Biol Sci D; Carla B. Ripamonti, MD PhD Students Sara Ciceri, Med Biotech D Fellow Claudia Foglia, Biol Sci D Technician Patrizia Mondini Silvia Grassi GENETIC EPIDEMIOLOGY AND PHARMACOGENOMICS Tommaso A. Dragani, PhD Giacomo Manenti, PhD; Paola Orsini, PhD Postdoctoral Fellows Francesca Colombo, PhD; Antonella Galvan, PhD; Marco Giannoccaro, MSc; Sara Noci, PhD; Marco Anderlini, MSc PhD Student Alice Dassano, MSc Technician Angela Pettinicchio FOR MORE INFORMATION ABOUT THE UNITS, VISIT US ONLINE AT 56

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