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MINERVA UROLOGICA E NEFROLOGICA
A Journal on Nephrology and Urology
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,536
Minerva Urologica e Nefrologica 2001 September;53(3):171-7
Hereditary neoplasms in urology
Sciarra A., Pastore A. L., Cardi A., Voria G., Di Silverio F.
Università degli Studi «La Sapienza» - Roma Dipartimento di Urologia «U. Bracci»
Most human malignant tumours derive from a series of several mutations in cell growth regulatory genes. Neoplastic transformation is a multistep, or at times multigenic event where several mutations must intervene. Hereditary forms have been identified for a number of human neoplasias. In hereditary forms, the individual already inherits one or more of these mutations and assumes an increased risk of developing a specific carcinoma and at an earlier age. On the other hand, in sporadic forms, the risk is lower because the environmental factors must provoke in sequence all the mutations necessary for neoplastic transformation. These genic mutations are often associated with the deletion of oncosuppressor genes which negatively regulate cell proliferation and/or with the hyper-expression and activation of protoncogenes which favour cell proliferation. The products of these genes are often growth factors or receptors of growth factors. The present review analyses the definition and more or less proven identification of familial and hereditary forms in neoplasias of urological interest.