“DNA-Guided” Therapy

Rapid progress in understanding the biomolecular basis of disease has brought new concepts to the diagnosis and treatment of some hereditary tumors. After the genes causing the syndromes were identified, the first step was the adoption of predictive genetic tests to identify within affected families those subjects considered to be carriers of the mutations, and then to enroll them in intensive surveillance program and perhaps even to offer prophylactic therapy. Over the years, and particularly following the detection of many types of alterations in the genes responsible for hereditary tumors, it has become possible to correlate genotype, as determined by genetic testing, with the heterogeneous forms of phenotypic expression and clinical manifestations, and thus to provide patients with prognostic information.