Genetica ed oncogenesi dei tumori renali.

Translated title of the contribution: [Genetics and oncogenesis of renal cancer].

Research output: Contribution to journalArticle

Abstract

The development and progression of cancer requires several genetic modifications. Multiple transformation and progression events such as point mutations, deletions/insertions, chromosomal abnormalities, and epigenetic deregulation contribute to renal oncogenesis. Three types of genes are involved in this multistep process: oncogenes, tumor suppressor genes, and DNA repair genes. About 4% of renal tumors are hereditary, i.e., the first mutation is present at the constitutive level in all cells of an individual, leading to an increased lifetime risk of cancer. Sporadic tumors are mainly single and of late onset, while hereditary tumors are usually multiple and of early onset in the presence of a positive family history for kidney cancer. Moreover, hereditary tumors are often associated with specific syndromic signs. The main hereditary syndromes that include renal tumors are Von Hippel- Lindau disease, hereditary papillary renal clear cell carcinoma, hereditary leiomyomatosis renal cell carcinoma, and the Birt-Hogg-Dube' syndrome. Other rarer conditions are chromosome 3 translocation, tuberous sclerosis, and the Lynch syndrome. Study of these diseases and identification of the responsible genes have been extremely useful in understanding several molecular issues of renal oncogenesis. Genetic testing makes it possible to diagnose hereditary cancer and confirm a clinical suspicion, as well as to identify at-risk individuals within a family. It is extremely important for nephrologists to be aware of these hereditary conditions, as this will allow early recognition and improved clinical management.

Original languageItalian
JournalGiornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia
Volume27 Suppl 50
Publication statusPublished - Sep 2010

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Kidney Neoplasms
Carcinogenesis
Neoplasms
Kidney
Renal Cell Carcinoma
Birt-Hogg-Dube Syndrome
Leiomyomatosis
Genes
von Hippel-Lindau Disease
Hereditary Nonpolyposis Colorectal Neoplasms
Tuberous Sclerosis
Chromosomes, Human, Pair 3
Genetic Testing
Tumor Suppressor Genes
Oncogenes
Point Mutation
Epigenomics
Chromosome Aberrations
DNA Repair
Mutation

ASJC Scopus subject areas

  • Nephrology

Cite this

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abstract = "The development and progression of cancer requires several genetic modifications. Multiple transformation and progression events such as point mutations, deletions/insertions, chromosomal abnormalities, and epigenetic deregulation contribute to renal oncogenesis. Three types of genes are involved in this multistep process: oncogenes, tumor suppressor genes, and DNA repair genes. About 4{\%} of renal tumors are hereditary, i.e., the first mutation is present at the constitutive level in all cells of an individual, leading to an increased lifetime risk of cancer. Sporadic tumors are mainly single and of late onset, while hereditary tumors are usually multiple and of early onset in the presence of a positive family history for kidney cancer. Moreover, hereditary tumors are often associated with specific syndromic signs. The main hereditary syndromes that include renal tumors are Von Hippel- Lindau disease, hereditary papillary renal clear cell carcinoma, hereditary leiomyomatosis renal cell carcinoma, and the Birt-Hogg-Dube' syndrome. Other rarer conditions are chromosome 3 translocation, tuberous sclerosis, and the Lynch syndrome. Study of these diseases and identification of the responsible genes have been extremely useful in understanding several molecular issues of renal oncogenesis. Genetic testing makes it possible to diagnose hereditary cancer and confirm a clinical suspicion, as well as to identify at-risk individuals within a family. It is extremely important for nephrologists to be aware of these hereditary conditions, as this will allow early recognition and improved clinical management.",
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