CODE 109047 ACADEMIC YEAR 2023/2024 CREDITS 4 cfu anno 3 BIOTECNOLOGIE 8756 (L-2) - GENOVA SCIENTIFIC DISCIPLINARY SECTOR BIO/13 LANGUAGE Italian TEACHING LOCATION GENOVA SEMESTER 2° Semester TEACHING MATERIALS AULAWEB OVERVIEW The course introduces the student to the genetic basis of cancer, the mechanisms of transformation, and the characterization of genetic and genomic variants underlying its onset and progression, with a special attention on hereditary oncological syndromes, molecular genetics techniques and target therapies. AIMS AND CONTENT LEARNING OUTCOMES The aim of the course is to provide students with the basis for explaining the genetic/molecular mechanisms underlying tumor transformation, from the initial stages to those of invasiveness and metastasis. AIMS AND LEARNING OUTCOMES At the end of the course, the student will be able familiar with the mechanisms underlying the neoplastic transformation starting from the genetic alterations, both germline and somatic, and to interpret the meaning of the genomic variants in the neoplastic transformation. During the course, the peculiar characteristics of the neoplastic cell will be studied, such as cell proliferation, apoptosis, angiogenesis, and the ability to metastasize. The different cellular pathways most altered in tumors, receptors, transcription factors, the role of oncogenes, tumor suppressors and carcinogens, new target therapies, resistance mechanisms, cancer epigenetics will be analyzed. A special focus will be on the onset mechanisms of sporadic tumors and the hereditary defects that lead to susceptibility to specific hereditary tumor syndromes. During the laboratory hours, the genetic tests used to highlight genetic alterations underlying the neoplastic transformation through next-generation sequencing (NGS) methods will be investigated. PREREQUISITES Basic genetics, cellular and molecular biology. TEACHING METHODS The course consists of 36 hours lectures and 8-hours laboratory. The laboratory will be held by the lecturers, assisted by laboratory tutors. A brief introduction is provided at the beginning of each laboratory activity to give the basic principles on which the molecular methodologies that will be used are based. Based on the number of students, groups of three / four students can be created. With the support of teachers/tutors, NGS (Next Generation Sequencing) techniques or targeted techniques for the search of pathogenetic variants will be applied to neoplastic tissue or circulating DNA. SYLLABUS/CONTENT Introduction to the molecular basis of cancer. Milestones of seminal discoveries. The nature of cancer, cell proliferation, classification based on normal tissue of origin. Oncogenic viruses, cellular oncogenes, growth factors and receptors, signal transduction in cancer cells, and tumor suppressor genes. Cell cycle regulation and cancer, p53 and apoptosis, cell immortalization and angiogenesis. Stages of the tumorigenesis process. Genomic integrity, ability to metastasize. Cellular pathways most altered in tumors. Newly developed target therapies and resistance mechanisms. Epigenetics of Cancer. Complex models of tumorigenesis. Sporadic tumors. Hereditary-familial tumors and tumor syndromes. RECOMMENDED READING/BIBLIOGRAPHY Robert Weinberg - The biology of cancer - Ed Zanichelli Lecture notes by the teacher TEACHERS AND EXAM BOARD PAOLA GHIORZO Ricevimento: Make an appointment by e-mail paola.ghiorzo@unige.it, or telephone 0105557255. Address: DiMI; Viale Benedetto XV, 6. Secondo floor , room 206 LORENZA PASTORINO Exam Board PAOLA GHIORZO (President) LORENZA PASTORINO (President) LESSONS LESSONS START Second semester, according to calendar Class schedule The timetable for this course is available here: Portale EasyAcademy EXAMS EXAM DESCRIPTION The exam will be oral and will focus mainly on the topics covered during the lectures and will aim to assess not only if the student has reached an adequate level of knowledge but if he has acquired the ability to critically analyze the topics covered in class, such as the identification of a specific hereditary tumor syndrome interpreting a family tree.. The learning ability and the appropriateness of terminology will be assessed. ASSESSMENT METHODS The parameters for assessing the student's preparation will mainly be based on the ability to critically reason and analyze the topics covered and the correct use of lexicon and terminology.