Seminario 24 Oncogenetica - Roxana Cerretini

Seminar number 25. Uh, we're going to talk about oncogenetics. Oncogenetics is a branch of medical genetics that focuses on the study of genetic factors that predispose individuals to developing cancer. So, what this field, ukogenetics, does is analyze how different genetic variants in the nucleotide sequence of DNA in certain genes can increase the risk

of developing different types of cancers and seeks to identify those pathogenic variants that will allow us to offer the patient prevention measures, early diagnostic measures and personalized treatment. The two main groups of genes that are involved in tumor development, and which are precisely the group of genes whose genetic variants must be analyzed,

are the oncogenes. The normal function, their normal version of the oncogene are the proto-oncogenes. In other words, in its normal functional state it is called a proto-oncogene and is involved under normal conditions in promoting cell growth and division. When this proto-oncogene acquires certain variants called pathogenic, it becomes an oncogene, it gains a function. What

are the mechanisms that lead to a proto-oncogene? which is a normal gene that is primarily involved in regulating cell proliferation, cell differentiation, and apoptosis. How does this proto-oncogene become an oncogene? To obtain a gain of function, it is enough that a single copy, a single allele of this gene is altered for us to

have the phenotypic expression, that is, to have the presence of a dysregulation, for example, of cell proliferation. What are the mechanisms that lead a proto-oncogene to transform into an oncogene? Well, there are mainly three mechanisms. One is gene amplification, that is, a gene that codes for a protogenetic gene that is normally found in one copy,