Molecular Mechanisms and Biomarkers Group
The development of cancer is driven by the accumulation of alterations affecting the structure and function of the genome. These alterations are often acquired as the result of exposure to environmental or endogenous risk factors. These changes primarily affect not only the functioning of the proteins encoded by the altered genes but also the whole cellular circuitry controlling cell growth, replicative potential, survival, and response to stress. Identifying the causes and consequences of these changes is essential for understanding the mechanisms underlying cancer development, for predicting cancer risk, and for designing efficient preventive strategies.
Although epidemiological studies support the role of the environment in a wide range of human cancers, the precise mechanisms by which environmental exposures promote cancer development and progression remain poorly understood. It is only with recent advances in genomics that molecular mechanisms underlying environmental influences are beginning to be elucidated. Somatic mutations and other genetic changes can be “read” as fingerprints of mechanisms of mutagenesis, providing clues on cancer phenotype and gene-environment interactions involved in cancer causation. Previous studies mostly investigated genetic and epigenetic end-point changes in tumors, but current sequencing efforts have the potential to identify events that precede and promote tumour development and make it possible to differentiate between passenger and driver events. Large-scale sequencing studies are already revealing the homeostatic pathways and processes that are frequently disrupted in specific human malignancies. Further studies are needed to identify important early events in carcinogenesis that are influenced by a wide range of environmental exposures.