Focus

Genetic and functional analysis of tumors: study of both familiar and sporadic cases for the identification of new cancer genes and the assessment of a new molecular classification of tumors and cancer-prone diseases

Identification of the genes that are mutated in cancer is a central aim of
cancer research. It forms the foundation for understanding the biological
abnormalities within neoplastic cells, provides information on the
function of gene products, and sheds light on more complex questions such
as the relationships between genes and biochemical pathways. Current
strategies for the development of new therapeutic and preventive agents in
cancer are increasingly dependent upon modulation of these critical
molecular targets. Moreover, cancer classification and predictive or
prognostic indices will increasingly be based upon detection of
abnormalities in cancer genes.
Although there has been considerable progress in the identification of
genes that are mutated in cancer, several lines of evidence indicate that
there are many (probably the large majority) yet to be discovered. Studies
of the age dependent incidence of cancer suggest that five to seven low
frequency, random mutational events are required for the development of
common adult cancers. However, this type of analysis can only reflect rate-limiting steps and therefore may well underestimate the full set of
genetic events present. Moreover, for most cases of most classes of cancer
even this number of abnormalities has not been detected. In addition,
there are clearly differences between cancer types with respect to the
genes that are mutated and every cancer of a particular type does not
acquire mutations in exactly the same set of genes.
Constitution of a cooperative group including some of the main
institutions which are involved into the biomedical and biotechnological
research as well as into the scientific teaching for the Southern areas of
Campania and Sardegna, has contributed to create a network of
collaborations among the different areas of advanced biomedical and
biotechnological research [at present, interactions between research
institutions (University, National Research Council, etc.), health
institutions (Hospitals, Aziende Sanitarie Locali), I.R.C.C.S. (Istituti
di ricovero e cura a carattere scientifico) and Companies are very poor,
with a limited role into the development of territorial activities, and
based on personal contacts or on collaborations restricted to specific
fields], focused on:
- Definition of existing correlation between presence of genetic mutations
(at both somatic and gemline level) and cell phenotype in order to
identify the mechanisms involved into the development and progression of
cancer
- Molecular characterization of the products (mRNA and protein) of the
mutated candidate genes
- Identification of the mutation pattern among a large group of proteins
and peptides specifically expressed in cancer cells and associated to the
tumorigenesis
- Generation of new tumor markers for molecular diagnosis based on data
obtained by combined genomic and proteomic analyses in order to early
detect cancer progression
- Correlation between genotype, proteic phenotype, histopathology,
clinical outcome and response to therapy in order to define new prognostic
factors, which should classify the different risk subsets of cancer
patients, optimizing both management and therapy of the disease
- Identification of new tumor targets for developing new therapeutical
approaches

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